Numerous mutations causing amino acid substitution, additions, deletions, and frame shifts within TERT, the essential protein component of the telomerase ribonucleoprotein (RNP), have been connected with human diseases. TERT contains the catalytic site for the synthesis of telomeric repeats from the RNA template. TERT is composed of three domains, N-terminal extension (NTE) that contains RNA-interaction domains 1 and 2 (RID1 and RID2), reverse transcription domain (RT) where nucleotide transfer occurs, and a C-terminal extension (CTE) for processivity and localization.
The above structural organizational scheme for the various motifs with the three domains of the TERT protein has indicated the locations of mutations known to cause human diseases. The black line represents the mRNA sequence of 4015 nt with the untranslated regions (UTR) labeled and the grey box corresponds to the protein sequence. The individual motifs are labeled and NTE is denoted by green, CTE by orange, and the central RT domain by blue boxes. The Genbank accession numbers used are
NT_006576 for the 41881 bp gene and
NM_198253 for the cDNA and amino acid sequences. Below is the 1132 amino acid sequence for TERT protein with the motifs labeled and colored by domain. The mutated residues are colored red and the change in amino acids is labeled.
Below is a description of the locations within the nucleotide and protein sequence, the amino acid substitutions, the characteristic clinical presentations, and original literature citations that are linked to the published online journal for known mutations within the telomerase protein TERT. The cDNA sequence is used for the nucleotide sequence. The mutations are organized by domain from the N-terminus to the C-terminus and grouped by domain.
Domains |
Mutation |
AA substitution |
Motif |
Presentation |
References |
N-Terminal |
c.22_43dup22 |
p.Arg15Profs*184 |
n/a |
Pulmonary fibrosis |
Borie et al, 2016 |
c.55C>T |
p.Arg19Cys |
n/a |
Pulmonary fibrosis |
Borie et al, 2016 |
c.97C>T |
p.Pro33Ser |
n/a |
idiopathic pulmonary fibrosis and fibrosis |
Tsakiri et al, 2007 |
r.110_113delGACT |
|
n/a |
Pulmonary fibrosis |
Borie et al, 2015
|
c.164T>A |
p.Leu55Gln |
n/a |
idiopathic pulmonary fibrosis |
Armanios et al, 2007 |
c.166G>C |
p.Val56Leu |
n/a |
aplastic anemia |
Vulliamy et al, 2011 |
c.193C>G |
p.Pro65Ala |
GQ |
acute myeloid leukemia |
Calado et al, 2009 |
c.228C>A |
p.Cys76* |
GQ |
Pulmonary fibrosis |
Borie et al, 2016 |
c.232A>T |
p.Lys78* |
GQ |
Pulmonary fibrosis |
Justet et al, 2021
|
c.248G>C |
p.Arg83Pro |
GQ |
aplastic anemia, myelodysplastic syndrome |
Vulliamy et al, 2011 |
c.250C>T |
p.(?) |
GQ |
head and neck ucosal melanoma |
Sari et al, 2016 |
c.277+1G>A |
n/a |
IVS1 |
idiopathic pulmonary fibrosis |
Armanios et al, 2007 |
c.299G>A |
p.Gly100Asp |
GQ |
Pulmonary fibrosis |
Justet et al, 2021
|
c.(?) |
p.Gly106Trp |
GQ |
cryptic dyskeratosis congenita |
Yamaguchi et al, 2015 |
c.329G>C |
p.Gly110Ala |
GQ |
dyskeratosis congenita |
Collopy et al, 2015 |
c.(334_336)delC |
p.Pro112ProfsX16 |
GQ |
idiopathic pulmonary fibrosis |
Armanios et al, 2007 |
c. |
p.Thr116Ile |
GQ |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.336dupC |
p.Glu113Argfs*79 |
GQ |
Pulmonary fibrosis |
Justet et al, 2021
|
c.345C>G |
p.Phe115Leu |
GQ |
Myelodysplastic syndrome and Acute myeloid leukemia |
Schratz et al, 2021
|
c.355G>A |
p.Val119Met |
GQ |
dyskeratosis congenita |
Collopy et al, 2015 |
c.395G>A |
p.Arg132Gln |
GQ |
Pulmonary fibrosis |
|
c.(?) |
p.Gly135Glu |
GQ |
hepatopulmonary syndrome |
Gorgy et al, 2015 |
c.430G>A |
p.Val144Met |
GQ |
idiopathic pulmonary fibrosis and pleuroparenchymal fibroelastosis |
Tsakiri et al, 2007 Newton et al, 2016 |
c.446T>A |
p.Leu149Gln |
GQ |
Pulmonary fibrosis |
Justet et al, 2021
|
c.508G>A |
p.Val170Met |
GQ |
aplastic anemia and pulmonary fibrosis |
Parry et al, 2011 |
c.515G>A |
p.Gly172Glu |
GQ |
Pulmonary fibrosis |
Justet et al, 2021
|
c.(?) |
p.Val170Leu |
GQ |
idiopathic pulmonary fibrosis |
Alder et al, 2018 |
c.604G>A |
p.Ala202Thr |
n/a |
aplastic anemia |
|
c.779G>A |
p.Gly260Asp |
n/a |
aplastic anemia |
Calado et al, 2009.1 |
c.(?) |
p.Ala243Val |
n/a |
hepatocellular carcinoma |
Donaires et al, 2017 |
c.1849C>T |
p.Ala279Thr |
n/a |
polymorphism |
|
c.(?) |
p.Glu280Lys |
n/a |
dyskeratosis congenita |
Yamaguchi et al, 2015 |
c.895G>A |
p.Val299Met |
n/a |
acute myeloid leukemia |
Calado et al, 2009 |
c.896G>A |
p.(?) |
n/a |
acute myeloid leukaemia |
Yan et al, 2012 |
c.1002_1004del |
p.334_335del |
n/a |
dyskeratosis congenita |
Yamaguchi et al, 2015 |
c.1062A>T |
p.(?) |
n/a |
acute myeloid leukaemia |
Aref et al, 2014 |
c.1079C>G |
p.(?) |
n/a |
acute myeloid leukaemia |
Yan et al, 2012 |
c.1103C>T |
p.Ser368Phe |
n/a |
pancytopenia, aplastic anemia, pulmonary fibrosis |
Calado et al, 2009.2 |
c.1141C>T |
p.Arg281Cys |
n/a |
dyskeratosis congenita |
Collopy et al, 2015 |
c.1141C>G |
p.Arg281Gly |
n/a |
dyskeratosis congenita |
Collopy et al, 2015 |
c.1142G>C |
p.Arg381Pro |
n/a |
dyskeratosis congenita |
Vulliamy et al, 2011 |
c.1215C>G |
p.Tyr405* |
CP |
Pulmonary fibrosis |
Justet et al, 2021 |
c.1234C>T |
p.His412Tyr |
CP |
polymorphism/aplastic anemia/myelodysplastic syndrome/idiopathic pulmonary fibrosis |
|
c.1321_1323delGAG |
p.Glu441del |
n/a |
polymorphism/hepatic cirrhosis |
Yamaguchi et al, 2005
Calado et al, 2011 |
c.1336_1337insC |
p.Arg446ProfsX93 |
n/a |
dyskeratosis congenita |
Collopy et al, 2015 |
c.1336dupC |
p.Arg446Profs*93 |
n/a |
Dyskeratosis congenita, pulmonary fibrosis |
Justet et al, 2021
|
c.1432T>C |
p.Trp478Arg |
QFP |
Pulmonary fibrosis |
Justet et al, 2021
|
c.1451G>C |
p.(?) |
QFP |
acute myeloid leukaemia |
Yan et al, 2012 |
c.1456C>T |
p.Arg486Cys |
QFP |
idiopathic pulmonary fibrosis |
Tsakiri et al, 2007 |
c.(?) |
p.Phe487Leu |
QFP |
liver disease and bone marrow failure |
Alder et al, 2018 |
c.1511C>T |
p.Ser504Leu |
QFP |
Pulmonary fibrosis |
|
c.1565G>A |
p.Arg522Lys |
n/a |
acute myeloid leukemia |
Calado et al, 2009 |
c.1570C>G |
p.Pro524Ala |
n/a |
aplastic anemia |
Collopy et al, 2014 |
c.1584T>G |
p.Cys528Trp |
n/a |
Pulmonary fibrosis |
|
c.1589C>T |
p.Pro530Leu |
n/a |
hoyeraal-hreidarsson syndrome/dyskeratosis congenita/hepatic cirrhosis/pulmonary fibrosis |
|
c.1604G>A |
p.Arg535His |
n/a |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.1630T>C |
p.Phe544Leu |
T |
Pulmonary fibrosis |
|
c.1692G>A |
p.Thr564Thr |
T |
Pulmonary fibrosis |
Borie et al , 2016 |
c.1698_1700delCAC |
p.Thr567del |
T |
Pulmonary fibrosis |
|
c.1710G>C |
p.Lys570Asn |
T |
Pulmonary fibrosis |
|
c.1710G>(T_C) |
p.Lys570Asn |
T |
Heterozygote presents as aplastic anemia |
Xin et al, 2007 |
c.1710G>(T_C) |
p.Lys570Asn |
T |
Homozygote presents as Hoyeraal Hreidarsson syndrome |
Gramatges et al , 2013 |
c.1729C>T |
p.Arg577Trp |
T |
Pulmonary fibrosis |
Justet et al, 2021
|
c.(?) |
p.Asn571Ser |
T |
pulmonary fibrosis and bone marrow failure |
Alder et al, 2018 |
c.1743delG |
p.Trp581X |
QFP |
dyskeratosis congenita |
Collopy et al, 2015 |
c.1769+1G>A |
n/a |
IVS |
dyskeratosis congenita |
Collopy et al, 2015 |
c.1805C>T |
p.Ser602Leu |
n/a |
Pulmonary fibrosis |
Justet et al, 2021
|
|
|
Reverse transcriptase |
c.(?) |
p.Arg622His |
1 |
idiopathic pulmonary fibrosis |
Dai et al, 2014 |
c.1828C>T |
p.Arg610Trp |
n/a |
Pulmonary fibrosis |
|
c.1864C>T |
p.Arg622Cys |
1 |
Pulmonary fibrosis |
|
c.1882G>A |
p.Asp628Asn |
1 |
Pulmonary fibrosis |
Justet et al, 2021
|
c.1885G>C |
p.Gly629Arg |
1 |
idiopathic pulmonary fibrosis |
Petrovski et al, 2017 |
c.1892G>A |
p.Arg631Gln |
2 |
pulmonary fibrosis |
Diaz de Leon et al, 2010 |
c.1895C>T |
p.Pro632Leu |
2 |
pulmonary fibrosis |
Maryoung et al, 2017 |
c.1895C>G |
p.Pro632Arg |
2 |
cryptic dyskeratosis congenita |
Yamaguchi et al, 2015 |
c.1928G>C |
p.Arg643Thr |
n/a |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.1989G>C |
p.Ser663Arg |
3a |
idiopathic pulmonary fibrosis |
Petrovski et al, 2017 |
c.(?) |
p.Val664Leu |
3a |
bone marrow failure and idiopathic pulmonary fibrosis |
Alder et al, 2018 |
c.2005C>T |
p.Arg669Trp |
3a |
Pulmonary fibrosis |
|
c.2011C>T |
p.Arg671Trp |
3b |
Pulmonary fibrosis |
|
c. |
p.Arg671Gly |
3b |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.2033C>A |
p.Ala678Asp |
3b |
pulmonary fibrosis |
Chambers et al, 2012 |
c.2045G>A |
p.Gly682Asp |
3b |
aplastic anemia |
Liang et al, 2006 |
c.2053G>A |
p.Asp685Asn |
3b |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.2058C>G |
p.Ile686Met |
3b |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.2062C>G |
p.Glu668Asp |
3a |
cyrptogenic cirrhosis |
Valenti et al, 2013 |
c.2069G>C |
p.Trp690Ser |
3c |
idiopathic pulmonary fibrosis |
Petrovski et al, 2017 |
c.2080G>A |
p.Val694Met |
3c |
Pulmonary fibrosis, Cancer |
|
c.2081C>T |
p.Val694Glu |
3c |
idiopathic pulmonary fibrosis |
Petrovski et al, 2017 |
c.2092C>T |
p.Arg698Trp |
3c |
dyskeratosis congenita |
Carrillo et al, 2012 |
c.2093G>A |
p.Arg698Gln |
3c |
dyskeratosis congenita |
Carrillo et al, 2012 |
c.2093G>A |
p.Arg698Gln |
3c |
Pulmonary fibrosis |
Borie et al, 2016 |
c.2105C>T |
p.Pro702Leu |
n/a |
pulmonary fibrosis |
Cronkhite et al, 2008 |
c.2105C>T |
p.Pro702Leu |
n/a |
Pulmonary fibrosis |
Borie et al, 2016 |
c.2110C>T |
p.Pro704Ser |
n/a |
autosomal dominant dyskeratosis congenita/aplastic anemia/idiopathic pulmonary fibrosis/myelodysplastic syndrome |
|
c.2113G>C |
p.Glu705Gln |
n/a |
dyskeratosis congenita |
Collopy et al, 2015 |
c.2146G>A |
p.Ala716Thr |
A |
Aplastic anemia, pulmonary fibrosis |
|
c.2147C>T |
p.Ala716Val |
A |
severe pancytopenia and aplastic anemia |
Du et al, 2009 |
c.2147C>T |
p.Ala716Val |
A |
Pulmonary fibrosis |
|
c.2152G>A |
p.Asp718Asn |
A |
dyskeratosis congenita |
Vulliamy et al, 2011 |
c.2159T>C |
p.Ile720Thr |
n/a |
Pulmonary fibrosis |
Borie et al, 2016 |
c.2162C>G |
p.Pro721Arg |
n/a |
autosomal recessive dyskeratosis congenita |
Vulliamy et al, 2006 |
c.(?) |
p.Gln722X |
IFDa |
bone marrow failure |
Alder et al, 2018 |
c.2173C>T |
p.Leu714Phe |
n/a |
aplastic anemia |
Collopy et al, 2014 |
c.2177C>T |
p.Thr726Met |
IFDa |
aplastic anemia |
Liang et al, 2006 |
c.2224C>T, c.2655-47_2659dup |
p.Arg742Cys p.Leu887Argfs*16 |
n/a |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2225G>A |
p.Arg742His |
IFDb |
Pulmonary fibrosis |
|
c.2240delT |
p.Val747AlafsX20 |
IFDb |
idiopathic pulmonary fibrosis |
Tsakiri et al, 2007 |
c.2267G>T |
p.Arg756Leu |
IFDb |
Pulmonary fibrosis |
|
c.2287-2A>G |
|
IFDb |
Pulmonary fibrosis |
|
c.2287-2A>C |
p.Arg756Leu |
n/a |
Pulmonary fibrosis |
|
c.2315A>G |
p.Tyr772Cys |
IFDb |
aplastic anemia |
Yamaguchi, 2005 |
c.2318T>C |
p.Met773Thr |
IFDb |
dyskeratosis congenita |
Collopy et al, 2015 |
c.2321G>T |
p.Arg774Leu |
IFDb |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2329G>A |
p.Val777Leu |
IFDb |
dyskeratosis congenita, idiopathic pulmonary fibrosis |
|
c.2354C>T |
p.Pro785Leu |
IFDb |
acute myeloid leukaemia |
|
c.2377G>A |
p.Glu793Lys |
IFDb |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2383-2A>G |
n/a |
IVS |
idiopathic pulmonary fibrosis |
|
c.2431C>T |
p.Arg811Cys |
IFDc |
autosomal recessive dyskeratosis congenita |
Marrone et al, 2007.2 |
c.2431C>T |
p.Arg811Cys |
IFDc |
Pulmonary fibrosis |
|
c.2446C>G |
p.His816Asp |
B |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2456G>A |
p.Arg819His |
B |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2468+6T>G |
n/a |
B |
Pulmonary fibrosis |
Justet et al, 2021 |
c.2474A>G |
p.Tyr825Cys |
B |
dyskeratosis congenita |
Collopy et al, 2015 |
c.? |
p.Val826Ser |
B |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c.2516C>T |
p.Thr839Met |
B |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2521C>T |
p.Leu841Phe |
B |
pulmonary fibrosis |
Parry et al, 2011 |
c.2537A>G |
p.Tyr846Cys |
B |
aplastic anemia |
Du et al, 2008 |
c.2542G>A |
p.Asp848Asn |
B |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2572C>T |
p.Arg858Trp |
n/a |
pulmonary fibrosis, liver disease and bone marrow failure |
Newton et al, 2016 |
c.2581G>A |
p.Gly861Arg |
n/a |
myelodysplastic syndrome |
|
c.2583-2A>C |
p.Leu862_Leu884del |
IVS9 |
idiopathic pulmonary fibrosis |
Armanios et al, 2007 |
c.2593C>T |
p.Arg865Cys |
C |
idiopathic pulmonary fibrosis |
Tsakiri et al, 2007 |
c.2594G>A |
p.Arg865His |
C |
idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia |
|
c.(?) |
p.Arg865Ala |
C |
idiopathic pulmonary fibrosis |
|
c.2599G>A |
p.Val867Met |
C |
pulmonary fibrosis |
Diaz de Leon et al, 2010 |
c.2603A>G |
p.Asp868Gly |
C |
dyskeratosis congenita |
Sharma et al, 2014 |
c.(?) |
p.Thr874Arg |
C |
idiopathic pulmonary fibrosis |
Newton et al, 2016 |
c.2620A>G |
p.Thr874Ala |
C |
idiopathic pulmonary fibrosis |
Petrovski et al, 2017 |
c.2628C>G |
p.His876Gln |
C |
aplastic anemia |
Du et al, 2008 |
c.2638G>A |
p.Ala880Thr |
D |
hoyeraal-hreidarsson syndrome |
Vogiatzi et al, 2013 |
c.2638G>A |
p.Ala880Thr |
D |
Pulmonary fibrosis |
|
c.2639C>T |
p.Ala880Val |
D |
Pulmonary fibrosis |
Borie et al, 2016 |
c.2648T>G |
p.Phe883Cys |
D |
idiopathic pulmonary fibrosis |
Fernandez et al, 2012 |
c.2665C>T |
p.Arg889X |
D |
aplastic anemia |
Calado et al, 2009.1 |
c.2672T>A |
p.Phe883Ile |
D |
pulmonary fibrosis |
Maryoung et al, 2017 |
c.2678A>T |
p.Glu893Val |
D |
Pulmonary fibrosis |
|
c.2701C>T |
p.Arg901Trp |
D |
autosomal recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome |
Marrone et al, 2007.2 |
c.2706G>C |
p.Lys902Asn |
D |
autosomal dominant dyskeratosis congenita and aplastic anemia |
Armanios et al, 2005 |
c.2705A>G |
p.Lys902Arg |
D |
aplastic anemia |
Parry et al, 2011 |
c.2747G>A |
p.Arg979Gln |
E-I |
Myelodysplastic syndrome |
Schratz et al, 2020
|
c:2768C>T |
p.Pro923Leu |
n/a |
pulmonary fibrosis |
Gansner et al, 2012 |
c.2775C>A |
p.His925Gln |
n/a |
pulmonary fibrosis |
Diaz de Leon et al, 2010 |
|
|
C-terminal |
c.2812C>T |
p.Arg938Trp |
n/a |
idiopathic pulmonary fibrosis |
Petrovski et al, 2017 |
c.2843+1G>A |
|
E-I |
Pulmonary fibrosis |
|
c.2849delC |
p.Arg951Glyfs*30 |
E-I |
Pulmonary fibrosis |
Borie et al, 2016 |
c.2851delC |
p.Arg951Glyfs*30His |
E-I |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2851C>T |
p.Arg951Trp |
E-I |
pulmonary fibrosis/pleuroparenchymal fibroelastosis |
|
c.2869A>C |
p.Ser957Arg |
E-I |
pulmonary fibrosis |
Cronkhite et al, 2008 |
c.2911C>T |
p.Arg971Cys |
E-I |
Pulmonary fibrosis |
|
c.2912C>T |
p.Arg971His |
E-I |
dyskeratosis congenita |
Carrillo et al, 2012 |
c.2915G>A |
p.Arg972His |
E-I |
dyskeratosis congenita |
Vulliamy et al, 2011 |
c.2935C>T |
p.Arg979Trp |
E-I |
aplastic anemia and dyskeratosis congenita, pulmonary fibrosis |
|
c.2936G>A |
p.Arg979Gln |
E-I |
dyskeratosis congenita |
Collopy et al, 2015 |
c.2945G>A |
p.Cys982Tyr |
E-I |
Pulmonary fibrosis |
Borie et al, 2016 |
c.2966T>G |
p.Leu989Trp |
E-I |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2968C>T |
p.Gln990* |
E-I |
Pulmonary fibrosis |
|
c.2989G>A |
p.Val997Met |
E-I |
Pulmonary fibrosis |
Justet et al, 2021
|
c.2991delG |
p.Val976Valfs |
E-I |
pulmonary fibrosis |
Maryoung et al, 2017 |
c.(?) |
p.His983Tyr |
E-I |
Hepatopulmonary syndrome |
Gorgy et al, 2015 |
c.3007A>G |
p.Arg671Trp |
E-I |
Pulmonary fibrosis |
Justet et al, 2021 |
c.3014T>C |
p.Leu1005Pro |
E-I |
Pulmonary fibrosis |
Justet et al, 2021 |
c.3026C>T |
p.Ala1009Val |
E-I |
Pulmonary fibrosis, Myelodysplastic syndrome |
|
c.3043C>T |
p.Cys1015Arg |
E-I |
aplastic anemia |
Du et al, 2009 |
c.3055C>T |
p.Leu1019Phe |
E-I |
pulmonary fibrosis/chronic hypersensitivity pneumonitis |
|
c.3073G>T |
p.Val1025Phe |
n/a |
aplastic anemia |
Parry et al, 2011 |
c.3082A>C |
p.Asn1028His |
E-II |
dyskeratosis congenita |
Vulliamy et al, 2011 |
c.(?) |
p.Phe1032Ile |
E-II |
idiopathic pulmonary fibrosis |
Dai et al, 2014 |
c.(?) |
p.Thr1039Ala |
E-II |
bone marrow failure and liver disease |
Alder et al, 2018 |
c.3148A>G |
p.Lys1050Glu |
E-III |
Pulmonary fibrosis |
|
c.3150G>C |
p.Lys1050Asn |
E-II |
dyskeratosis congenita |
Collopy et al, 2015 |
c.3184G>A |
p.Ala1062Thr |
n/a |
polymorphism/ acute myeloid leukemia/ aplastic anemia |
|
c.3187G>A |
p.Gly1063Ser |
n/a |
pulmonary fibrosis |
Diaz de Leon et al, 2010 |
c.3199T>C |
p.Ser1067Pro |
E-III |
Pulmonary fibrosis |
Justet et al, 2021
|
c.3216G>A |
p.Trp1072* |
E-III |
Pulmonary fibrosis |
|
c.3251 G>C |
Arg1084Pro |
E-III |
pulmonary fibrosis |
El-Chemaly et al, 2011 |
c.3256C>T |
p.Arg1086Cys |
E-III |
connective tissue disease with usual interstital pneumonia associated |
Petrovski et al, 2017 |
c.3268G>A |
p.Val1090Met |
E-III |
aplastic anemia |
Yamaguchi, 2005 |
c.3286C>T |
p.Leu1096Phe |
E-III |
Pulmonary fibrosis |
Justet et al, 2021
|
c.3323C>T |
p.Pro1108Leu |
n/a |
idiopathic pulmonary fibrosis |
Juge et al, 2017 |
c.3329C>T |
p.Thr1110Met |
n/a |
idiopathic pulmonary fibrosis |
Armanios et al, 2007 |
c.3346_3522del177 |
p.Glu1116fsX |
n/a |
idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia |
Tsakiri et al, 2007 |
c.3379T>C |
p.Phe1127Leu |
n/a |
resembles Hoyeraal Hreidarsson syndrome and autosomal recessive dyskeratosis congenita |
|
c.3385A>C |
p.Thr1129Pro |
n/a |
dyskeratosis congenita |
Stockklausner et al, 2015 |
c.3388A>G |
p.Ile1130Val |
n/a |
aplastic anemia |
Vulliamy et al, 2011 |