Variant position: 346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 408 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 IVAPPGYQAFYCHGDCPFPL ADHLNSTNHAIVQTLVNSVNS
Mouse IVAPPGYQAFYCHGDCPFPL ADHLNSTNHAIVQTLVNSVNS
Rat IVAPPGYQAFYCHGDCPFPL ADHLNSTNHAIVQTLVNSVNS
Bovine IVAPPGYQAFYCHGDCPFPL ADHLNSTNHAIVQTLVNSVNS
Rabbit IVAPPGYQAFYCHGDCPFPL ADHFNSTNHAIVQTLVNSVNS
Chicken IVAPPGYQAFYCHGDCPFPL ADHLNSTNHAIVQTLVNSVNS
Xenopus laevis IVAPPGYQAFYCHGDCPFPL ADHLNSTNHAIVQTLVNSVNS
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.
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
Suzuki S.; Marazita M.L.; Cooper M.E.; Miwa N.; Hing A.; Jugessur A.; Natsume N.; Shimozato K.; Ohbayashi N.; Suzuki Y.; Niimi T.; Minami K.; Yamamoto M.; Altannamar T.J.; Erkhembaatar T.; Furukawa H.; Daack-Hirsch S.; L'heureux J.; Brandon C.A.; Weinberg S.M.; Neiswanger K.; Deleyiannis F.W.; de Salamanca J.E.; Vieira A.R.; Lidral A.C.; Martin J.F.; Murray J.C.;
Am. J. Hum. Genet. 84:406-411(2009)
Cited for: VARIANTS OFC11 CYS-91; GLN-162; HIS-287 AND VAL-346; VARIANTS ALA-102; ALA-152 AND ALA-168;
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.