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:
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 TVVNFPVEDEALGGTAFVQM PAHGLFPWCGLLLDTRTLEVQ
Mouse TVVNFPVEPGTLGGAAPYQL PAHCLFPWCGLLLDTQTLEVF
Rat TVVNFPVETGALGGAAPHQL PAHCLFPWCGLLLDTRTLEVF
Bovine TVVNFPVEPGALGGAAPLQL PAHCLFPWCGLLLDTRTLEVH
Dog TAVNFPVEDGALGSAAPLQL PAHCLFPWCGLLLDTRTLEVS
Baker's yeast IL------------AVSSQS DDDTVIQFCAMHIFVKELEVW
Fission yeast TVINFENSNGIINNTFFNES KKR--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
1 – 1132 Telomerase reverse transcriptase
605 – 935 Reverse transcriptase
914 – 928 Required for oligomerization
808 – 1132 Missing. In isoform 2 and isoform 4.
885 – 947 Missing. In isoform 3.
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;
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