Sequence information
Variant position: 186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 376 The length of the canonical sequence.
Location on the sequence:
KYLCRPRRVEIAALLDLTER
Q VKVWFQNRRMKHKRQTQCKE
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 KYLCRPRRVEIAALLDLTERQ VKVWFQNRRMKHKRQTQCKE
Mouse KYLCRPRRVEIAALLDLTERQ VKVWFQNRRMKHKRQTQCKE
Rat KYLCRPRRVEIAALLDLTERQ VKVWFQNRRMKHKRQTQCKE
Bovine KYLCRPRRVEIAALLDLTERQ VKVWFQNRRMKHKRQTQCKE
Chicken KYLCRPRRVEIAALLDLTERQ VKVWFQNRRMKHKRQTQCKE
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 – 376
Homeobox protein Hox-A2
DNA binding
143 – 202
Homeobox
Literature citations
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.
Alasti F.; Sadeghi A.; Sanati M.H.; Farhadi M.; Stollar E.; Somers T.; Van Camp G.;
Am. J. Hum. Genet. 82:982-991(2008)
Cited for: VARIANT MHICP LYS-186;
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.