Variant position: 306 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 LQLKELENEYAINKFINKDK RRRISAATNLSERQVTIWFQN
Mouse LQLKELENEYAINKFINKDK RRRISAATNLSERQVTIWFQN
Chicken LQLKELENEYAINKFINKDK RRRISAATNLSERQVTIWFQN
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
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
Debeer P.; Bacchelli C.; Scambler P.J.; De Smet L.; Fryns J.-P.; Goodman F.R.;
J. Med. Genet. 39:852-856(2002)
Cited for: VARIANT SPD1 TRP-306;
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