Variant position: 71 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 235 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 EPAGRRRARPVRSKARRMAA NVRERKRILDYNEAFNALRRA
Mouse EAAGRKRERPTRSKARRMAA NVRERKRILDYNEAFNALRRA
Zebrafish ERLIKKRSRPVRSKARRVAA NVRERKRILDYNQAFNALRVA
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
1 – 235 Class A basic helix-loop-helix protein 9
65 – 117 bHLH
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Malik S.; Percin F.E.; Bornholdt D.; Albrecht B.; Percesepe A.; Koch M.C.; Landi A.; Fritz B.; Khan R.; Mumtaz S.; Akarsu N.A.; Grzeschik K.H.;
Am. J. Hum. Genet. 95:649-659(2014)
Cited for: SUBCELLULAR LOCATION; FUNCTION; SUBUNIT; INTERACTION WITH TCF3; TCF4 AND TCF12; INVOLVEMENT IN MSDD; VARIANTS MSSD ASP-71; PRO-73 AND LEU-75; CHARACTERIZATION OF VARIANTS MSSD ASP-71; PRO-73 AND LEU-75;
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.