Sequence information
Variant position: 176 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 748 The length of the canonical sequence.
Location on the sequence:
YHEDDINYPHKYGPQGGCAD
H SVFERMRKYQMTGVEEVTQI
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 YHEDDINYPHKYGPQGGCADH S-------VFERMRKYQMTGVEEVTQI-
Mouse YHEDDINYPHKYGPQGGCADH S-------VFERMRKYQMTG
Rat YHEDDINYPHKYGPQGGCADH S-------VFERMRKYQMTG
Pig YHEDDINYPHKYGPQGGCADH S-------VFERMRKYQMTG
Bovine YHEDDIKYPHKYGPQGGCADH S-------VFERMRKYQMTG
Xenopus laevis YHEDDIKYPHKYGSEGGCADS S-------VFKRMKEYQMSV
Caenorhabditis elegans YRDDEINH-RKWRVKRDAENL SEQMQGCGFSSRVRREMTDV
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
Propeptide
20 – 213
Topological domain
20 – 672
Extracellular
Motif
171 – 178
Cysteine switch
Metal binding
173 – 173
Zinc; in inhibited form
Alternative sequence
19 – 319
Missing. In isoform 2.
Literature citations
Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.
Wei X.; Moncada-Pazos A.; Cal S.; Soria-Valles C.; Gartner J.; Rudloff U.; Lin J.C.; Rosenberg S.A.; Lopez-Otin C.; Samuels Y.;
Hum. Mutat. 32:E2148-E2175(2011)
Cited for: VARIANT TYR-176;
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.