Sequence information
Variant position: 944 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1674 The length of the canonical sequence.
Location on the sequence:
QLLERRVTDIIMQKMTISNM
E ADMNRLLKQREELTKRREKL
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 QLLERRVTDIIMQKMTISNME ADMNRLLKQREELTKRREKL
Mouse QLLERRVTDIIMQKMTISNME ADMNRLLRQREELTKRREKL
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.
Literature citations
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
Chan W.M.; Andrews C.; Dragan L.; Fredrick D.; Armstrong L.; Lyons C.; Geraghty M.T.; Hunter D.G.; Yazdani A.; Traboulsi E.I.; Pott J.W.; Gutowski N.J.; Ellard S.; Young E.; Hanisch F.; Koc F.; Schnall B.; Engle E.C.;
BMC Genet. 8:26-26(2007)
Cited for: VARIANTS CFEOM1 THR-356; GLN-944; GLN-954; LEU-954; TRP-954 AND PRO-1008;
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.