Variant position: 419 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 451 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 YAKRAFVHWYVGEGMEEGEF SEAREDMAALEKDYEEVGVDS
Chimpanzee YAKRAFVHWYVGEGMEEGEF SEAREDMAALEKDYEEVGVDS
Mouse YAKRAFVHWYVGEGMEEGEF SEAREDMAALEKDYEEVGVDS
Rat YAKRAFVHWYVGEGMEEGEF SEAREDMAALEKDYEEVGVDS
Pig YAKRAFVHWYVGEGMEEGEF SEAREDMAALEKDYEEVGVDS
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 – 451 Tubulin alpha-1A chain
432 – 432 Phosphotyrosine
439 – 439 Phosphoserine
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K.; Keays D.A.; Francis F.; Saillour Y.; Bahi N.; Manouvrier S.; Fallet-Bianco C.; Pasquier L.; Toutain A.; Tuy F.P.; Bienvenu T.; Joriot S.; Odent S.; Ville D.; Desguerre I.; Goldenberg A.; Moutard M.L.; Fryns J.-P.; van Esch H.; Harvey R.J.; Siebold C.; Flint J.; Beldjord C.; Chelly J.;
Hum. Mutat. 28:1055-1064(2007)
Cited for: TISSUE SPECIFICITY; VARIANTS LIS3 LEU-188; THR-263; CYS-264; PHE-286; HIS-402; CYS-402 AND LEU-419;
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