Sequence information
Variant position: 923 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:
TVVNFPVEDEALGGTAFVQM
P AHGLFPWCGLLLDTRTLEVQ
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 TVVNFPVEDEALGGTAFVQMP AHGLFPWCGLLLDTRTLEVQ
TAVNFPVEDGALGSAAPLQLP AHCLFPWCGLLLDTRTLEVS
Mouse TVVNFPVEPGTLGGAAPYQLP AHCLFPWCGLLLDTQTLEVF
Rat TVVNFPVETGALGGAAPHQLP AHCLFPWCGLLLDTRTLEVF
Bovine TVVNFPVEPGALGGAAPLQLP AHCLFPWCGLLLDTRTLEVH
Baker's yeast IL------------AVSSQSD DDTVIQFCAMHIFVKELEVW
Fission yeast TVINFENSNGIINNTFFNESK KR--MPFFGFSVNMRSLDTL
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
Region
914 – 928
Required for oligomerization
Alternative sequence
808 – 1132
Missing. In isoform 2 and isoform 4.
Alternative sequence
885 – 947
Missing. In isoform 3.
Literature citations
Pulmonary fibrosis, bone marrow failure, and telomerase mutation.
Gansner J.M.; Rosas I.O.; Ebert B.L.;
N. Engl. J. Med. 366:1551-1553(2012)
Cited for: VARIANT PFBMFT1 LEU-923;
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.