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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43541: Variant p.Glu287Lys

Mothers against decapentaplegic homolog 6
Gene: SMAD6
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Variant information Variant position: help 287
Type of variant: help US
Residue change: help From Glutamate (E) to Lysine (K) at position 287 (E287K, p.Glu287Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In CRS7; uncertain significance.
Other resources: help


Sequence information Variant position: help 287
Protein sequence length: help 496
Location on the sequence: help SRLCGPESPPPPYSRLSPRD E YKPLDLSDSTLSYTETEATN
Residue conservation: help 
Human                         SRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATN

Mouse                         SRLCGPESPPPPYSRLSPPDQYKPLDLSDSTLSYTETEATN

Chicken                       SRLCGPESPPPPYSRLSPNDEQKPLDLSDSTLSYTETEATN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 496 Mothers against decapentaplegic homolog 6



Literature citations
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
Timberlake A.T.; Choi J.; Zaidi S.; Lu Q.; Nelson-Williams C.; Brooks E.D.; Bilguvar K.; Tikhonova I.; Mane S.; Yang J.F.; Sawh-Martinez R.; Persing S.; Zellner E.G.; Loring E.; Chuang C.; Galm A.; Hashim P.W.; Steinbacher D.M.; DiLuna M.L.; Duncan C.C.; Pelphrey K.A.; Zhao H.; Persing J.A.; Lifton R.P.;
Elife 5:0-0(2016)
Cited for: INVOLVEMENT IN CRS7; VARIANTS CRS7 223-GLN--ARG-496 DEL; LYS-287; ALA-306; LEU-323; 374-GLU--ARG-496 DEL; CYS-390; 407-GLU--ARG-496 DEL; CYS-465 AND THR-490;
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.