Sequence information
Variant position: 631 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:
EARPALLTSRLRFIPKPDGL
R PIVNMDYVVGARTFRREKRA
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 EARP--ALLTSRLRFIPKP--DGLR PIVNMDYVVGARTFRREKRA
EARP--ALLTSRLRFLPKP--SGLR PIVNMDYIMGARTFHR
Mouse DTWL--AMPICRLRFIPKP--NGLR PIVNMSYSMGTRALGR
Rat DTWL--AMPICRLRFIPKL--NGLR PIVNMSYGMDTRAFGK
Bovine EARP--ALLTSRLRFVPKP--GGLR PIVNVGCVEGAPAPPR
Baker's yeast NSYTLSNFNHSKMRIIPKKSNNEFR IIAIPCRGADEEEFTI
Fission yeast QKTT---LPPAVIRLLPKK--NTFR LITNLRKRFLIKMGSN
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.
Type Positions Description
Chain
1 – 1132
Telomerase reverse transcriptase
Domain
605 – 935
Reverse transcriptase
Mutagenesis
631 – 631
R -> A. Abolishes telomerase catalytic activity.
Literature citations
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M.; Vulliamy T.; Marrone A.; Walne A.J.; Beswick R.; Hillmen P.; Kelly R.; Stewart A.; Bowen D.; Schonland S.O.; Whittle A.M.; McVerry A.; Gilleece M.; Dokal I.;
Hum. Mutat. 30:1567-1573(2009)
Cited for: VARIANTS ALA-65; MET-299; LYS-522 AND THR-1062; VARIANTS AA THR-202; TYR-412; GLU-441 DEL; ASN-570; GLN-631; MET-694 AND LEU-785;
Disclaimer:
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.