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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13253: Variant p.Trp217Gly

Noggin
Gene: NOG
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Variant information Variant position: help 217
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Glycine (G) at position 217 (W217G, p.Trp217Gly).
Physico-chemical properties: help Change from large size and aromatic (W) to glycine (G)
BLOSUM score: help -2
Variant description: help In SYNS1.
Other resources: help


Sequence information Variant position: help 217
Protein sequence length: help 232
Location on the sequence: help SVHLTVLRWRCQRRGGQRCG W IPIQYPIISECKCSC
Residue conservation: help 
Human                         SVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC

Mouse                         SVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC

Chicken                       SVHLTILRWRCQRRGGQRCTWIPIQYPIIAECKCSC

Xenopus laevis                SMHLTILRWRCQRRVQQKCAWITIQYPVISECKCSC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 232 Noggin
Disulfide bond 178 – 228
Disulfide bond 184 – 230
Beta strand 214 – 231



Literature citations
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Gong Y.; Krakow D.; Marcelino J.; Wilkin D.; Chitayat D.; Babul-Hirji R.; Hudgins L.; Cremers C.W.; Cremers F.P.M.; Brunner H.G.; Reinker K.; Rimoin D.L.; Cohn D.H.; Goodman F.R.; Reardon W.; Patton M.; Francomano C.A.; Warman M.L.;
Nat. Genet. 21:302-304(1999)
Cited for: VARIANTS SYM1A ARG-35; CYS-189; ASN-220; CYS-222; ASP-222 AND LEU-223; VARIANT SYNS1 GLY-217;
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.