Variant position: 979 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1132 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TFNRGFKAGRNMRRKLFGVL RLKCHSLFLDLQVNSLQTVCT
Mouse TFQSVFKAGKTMRNKLLSVL RLKCHGLFLDLQVNSLQTVCI
Rat TFQGVSRAGKTMRYKLLSVL RLKCHGLFLDLQVNSLQTVCI
Bovine TFTQGFKPGRNMRRKLLAVL QLKCHGLFLDLQVNSLQTVFT
Baker's yeast ------KSSKGIFRSLIALF NTRISYKTIDTNLNSTNTVLM
Fission yeast SVELTKHMGKSFFYKILRSS LASFAQVFIDITHNSKFNSCC
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Vulliamy T.J.; Walne A.; Baskaradas A.; Mason P.J.; Marrone A.; Dokal I.;
Blood Cells Mol. Dis. 34:257-263(2005)
Cited for: VARIANT AA THR-202; VARIANTS DKCA2 TRP-979 AND LEU-1127; CHARACTERIZATION OF VARIANT AA THR-202; CHARACTERIZATION OF VARIANTS DKCA2 TRP-979 AND LEU-1127;
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin Z.T.; Beauchamp A.D.; Calado R.T.; Bradford J.W.; Regal J.A.; Shenoy A.; Liang Y.; Lansdorp P.M.; Young N.S.; Ly H.;
Cited for: VARIANT AA ASN-570; CHARACTERIZATION OF VARIANTS ASN-570; ASP-682; ARG-721; MET-726; ASN-902; TRP-979 AND LEU-1127;
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
Batista L.F.; Pech M.F.; Zhong F.L.; Nguyen H.N.; Xie K.T.; Zaug A.J.; Crary S.M.; Choi J.; Sebastiano V.; Cherry A.; Giri N.; Wernig M.; Alter B.P.; Cech T.R.; Savage S.A.; Reijo Pera R.A.; Artandi S.E.;
Cited for: VARIANT DKCB4 SER-704; VARIANT DKCA2 TRP-979; CHARACTERIZATION OF VARIANT DKCB4 SER-704; CHARACTERIZATION OF VARIANT DKCA2 TRP-979; CATALYTIC ACTIVITY;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.