Variant position: 233 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1690 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 TSSRSHAVFNIIFTQKRHDA ETNITTEKVSKISLVDLAGSE
Mouse TSSRSHAVFNIIFTQKRHDA ETNITTEKVSKISLVDLAGSE
Drosophila TSSRSHAVFTIFFTQRRHDL MTNLTTEKVSKISLVDLAGSE
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 – 1690 Kinesin-like protein KIF1A
5 – 354 Kinesin motor
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S.; Madou M.R.; Sirajuddin M.; Fregeau B.; McKnight D.; Lexa K.; Strober J.; Spaeth C.; Hallinan B.E.; Smaoui N.; Pappas J.G.; Burrow T.A.; McDonald M.T.; Latibashvili M.; Leshinsky-Silver E.; Lev D.; Blumkin L.; Vale R.D.; Barkovich A.J.; Sherr E.H.;
Ann. Clin. Transl. Neurol. 2:623-635(2015)
Cited for: VARIANTS MET-46; ASN-136; ILE-187; MET-205; ILE-220; ASP-233; VAL-336 AND HIS-355; VARIANTS MRD9 MET-99; CYS-216; HIS-216; LYS-253 AND TRP-316; CHARACTERIZATION OF VARIANTS MRD9 MET-99; CYS-216; LYS-253 AND VAL-255; CHARACTERIZATION OF VARIANT ILE-220;
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