Variant position: 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 343 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 NKDKRRRISAATNLSERQVT IWFQNRRVKDKKIVSKLKDTV
Mouse NKDKRRRISAATNLSERQVT IWFQNRRVKDKKIVSKLKDTV
Chicken NKDKRRRISAATNLSERQVT IWFQNRRVKDKKIVSKLKDNV
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 – 343 Homeobox protein Hox-D13
276 – 335 Homeobox
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Johnson D.; Kan S.H.; Oldridge M.; Trembath R.C.; Roche P.; Esnouf R.M.; Giele H.; Wilkie A.O.;
Am. J. Hum. Genet. 72:984-997(2003)
Cited for: VARIANTS BDE1 CYS-316 AND LEU-322; VARIANT BDD CYS-316;
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
Dai L.; Liu D.; Song M.; Xu X.; Xiong G.; Yang K.; Zhang K.; Meng H.; Guo H.; Bai Y.;
PLoS ONE 9:E96192-E96192(2014)
Cited for: VARIANTS SPD1 GLN-306 AND GLY-306; CHARACTERIZATION OF VARIANTS SPD1 GLN-306 AND GLY-306; CHARACTERIZATION OF VARIANT BDE1 LEU-322; FUNCTION; SUBCELLULAR LOCATION;
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.