Sequence information
Variant position: 173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2602 The length of the canonical sequence.
Location on the sequence:
IPYLPITNFNQNWQDGKALG
A LVDSCAPGLCPDWESWDPQK
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 IPYLPITNFNQNWQDGKALGA LVDSCAPGLCPDWESWDPQK
Mouse IPYLPITNFNQNWQDGKALGA LVDSCAPGLCPDWESWDPRK
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
1 – 2602
Filamin-B
Domain
139 – 242
Calponin-homology (CH) 2
Region
1 – 239
Actin-binding
Alternative sequence
170 – 181
ALGALVDSCAPG -> MQEHSTRRRSLS. In isoform 7.
Helix
169 – 178
Literature citations
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Krakow D.; Robertson S.P.; King L.M.; Morgan T.; Sebald E.T.; Bertolotto C.; Wachsmann-Hogiu S.; Acuna D.; Shapiro S.S.; Takafuta T.; Aftimos S.; Kim C.A.; Firth H.; Steiner C.E.; Cormier-Daire V.; Superti-Furga A.; Bonafe L.; Graham J.M. Jr.; Grix A.; Bacino C.A.; Allanson J.; Bialer M.G.; Lachman R.S.; Rimoin D.L.; Cohn D.H.;
Nat. Genet. 36:405-410(2004)
Cited for: INVOLVEMENT IN SCT; VARIANTS LRS CYS-161; LYS-227; ASN-1571 DEL; ARG-1586 AND SER-1691; VARIANTS AO1 VAL-173 AND PRO-188; VARIANT AO3 ARG-751; VARIANT AO1/AO3 VAL-202;
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.