Sequence information
Variant position: 791 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:
PYMRQFVAHLQETSPLRDAV
V IEQSSSLNEASSGLFDVFLR
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 PYMRQFVAHLQET--SPLRDAVV IEQSSSLNEASSGLFDVFLR
PYMRQFVERLQET--SLLRDAVV IEQSSSLNEAGSSLFHLF
Mouse PYMGQFLKHLQDSDASALRNSVV IEQSISMNESSSSLFDFF
Rat PYMGQFTKHLQDSDASALRNSVV IEQSISMNETGSSLLHFF
Bovine PYLRQLVEHLQAM--GSLRDAVV IEQSCSLNEPGSSLFNLF
Baker's yeast PYE------------------LY IDNVRTVHLSNQDVINVV
Fission yeast PFEK--VVQLLSM---KTSDTLF VDFVDYWTKSSSEIFKML
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
Alternative sequence
764 – 807
STLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFD -> LRPVPGDPAGLHPLHAALQPVLRRHGEQAVCGDSAGRAAPAFGG. In isoform 2 and isoform 4.
Literature citations
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
Alder J.K.; Cogan J.D.; Brown A.F.; Anderson C.J.; Lawson W.E.; Lansdorp P.M.; Phillips J.A. III; Loyd J.E.; Chen J.J.; Armanios M.;
PLoS Genet. 7:E1001352-E1001352(2011)
Cited for: VARIANTS PFBMFT1 ILE-791 AND MET-867; CHARACTERIZATION OF VARIANTS PFBMFT1 ILE-791 AND MET-867;
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.