Variant position: 221 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 241 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 CTTTHTFVKALTMDGKQAAW RFIRIDTACVCVLSRKAVRRA
Gorilla CTTTHTFVKALTMDGKQAAW RFIRIDTACVCVLSRKAVRRA
Chimpanzee CTTTHTFVKALTMDGKQAAW RFIRIDTACVCVLSRKAVRRA
Mouse CTTTHTFVKALTTDEKQAAW RFIRIDTACVCVLSRKATRRG
Rat CTTTHTFVKALTTDDKQAAW RFIRIDTACVCVLSRKAARRG
Bovine CTTTHTFVKALTMDGKQAAW RFIRIDTACVCVLSRKTGQRA
Chicken CTTTHTFVKALTMEGKQAAW RFIRIDTACVCVLSRKSGRP-
Xenopus laevis CTTTHTFVKALTMEGKQAAW RFIRIDTACVCVLSRK-GRT-
Zebrafish CTNSHTFVRALTSFKNLVAW RLIRINVACVCVLSRKSWRA-
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.
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
Einarsdottir E.; Carlsson A.; Minde J.; Toolanen G.; Svensson O.; Solders G.; Holmgren G.; Holmberg D.; Holmberg M.;
Hum. Mol. Genet. 13:799-805(2004)
Cited for: VARIANT HSAN5 TRP-221; FUNCTION;
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.
Carvalho O.P.; Thornton G.K.; Hertecant J.; Houlden H.; Nicholas A.K.; Cox J.J.; Rielly M.; Al-Gazali L.; Woods C.G.;
J. Med. Genet. 48:131-135(2011)
Cited for: CHARACTERIZATION OF VARIANT HSAN5 TRP-221; FUNCTION; SUBCELLULAR LOCATION;
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.