Sequence information
Variant position: 305 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 820 The length of the canonical sequence.
Location on the sequence:
TSHLFTTLGLRGLSGIGAFR
G MCTPHRSCAIVTFMNKTLGT
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 TSHLFTTLGLRGLSGIGAFRG MCTPHRSCAIVTFMNKTLGT
Mouse VSHLFIYRHLRGLSGIGSTGG ICDPKRSCAVVTFIDRTLNL
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
Chain
194 – 820
Disintegrin and metalloproteinase domain-containing protein 29
Topological domain
194 – 674
Extracellular
Domain
198 – 390
Peptidase M12B
Glycosylation
320 – 320
N-linked (GlcNAc...) asparagine
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: INVOLVEMENT IN CUTANEOUS MELANOMA; VARIANTS PHE-72; MET-89; LYS-111; PHE-112; PHE-115; ASN-131; LYS-176; PHE-234; PHE-257; GLU-305; ASN-345; ASP-403; ASP-434; LYS-503 AND TYR-533; CHARACTERIZATION OF VARIANTS LYS-111; PHE-112; PHE-115; PHE-257; ASP-434 AND LYS-503;
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.