Variant position: 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 239 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 TVSSTP------GARRQPSAERLWYV SVNGKGRPRRGFKTRRTQKSS
Mouse TGSSGP------GAQRQPGAQRPWYV SVNGKGRPRRGFKTR
Chicken TVPSGA------STKRKASAERLWYV SVNGKGRPRRGFKTR
Xenopus laevis TVPSGA------GTKRKASAERLWYV SINGKGRPRRGFKTR
Zebrafish TTQPPPTGSGIGGSKRRASSKRQWYV SINGKGRPRRGFKTR
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
18 – 239 Fibroblast growth factor 3
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
Tekin M.; Hismi B.O.; Fitoz S.; Oezdag H.; Cengiz F.B.; Sirmaci A.; Aslan I.; Inceoglu B.; Yueksel-Konuk E.B.; Yilmaz S.T.; Yasun O.; Akar N.;
Am. J. Hum. Genet. 80:338-344(2007)
Cited for: VARIANT LAMM PRO-156;
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