Variant position: 572 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 760 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 FCNYCWCWDLEYGYPSYTEF DISGNVLALIFNQGMIWMGSF
Mouse FCNYCWCWDLEYGYPSYTEF DISGNVLALIFNQGMIWMGSF
Zebrafish FLNNCWCWDLEYGFPSYSEF DVSGNVLGLIFNQGMIWMGAF
Caenorhabditis elegans YCSSWWCWDIETTFPEYGEF KVAENVLHIINNQGMIWLGLF
Baker's yeast -CNFCK-------------- ---------------------
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 – 760 Transmembrane channel-like protein 1
462 – 634 Cytoplasmic
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K.; Peters L.M.; Yang Y.; Riazuddin S.; Ahmed Z.M.; Naz S.; Arnaud D.; Drury S.; Mo J.; Makishima T.; Ghosh M.; Menon P.S.N.; Deshmukh D.; Oddoux C.; Ostrer H.; Khan S.; Raizuddin S.; Deininger P.L.; Hampton L.L.; Sullivan S.L.; Battey J.F.; Keats B.J.B.; Wilcox E.R.; Friedman T.B.; Griffith A.J.;
Nat. Genet. 30:277-284(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LYS-81; DFNA36 ASN-572 AND DFNB7 VAL-654;
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q.; Zhu H.; Qian X.; Chen Z.; Yao J.; Lu Y.; Cao X.; Xing G.;
J. Transl. Med. 12:311-311(2014)
Cited for: VARIANT DFNA36 ASN-572;
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