Variant position: 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 592 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 QATA----YATYPQPGQPYGISSY GALWAGIKTEGGLSQSQSPGQ
Mouse QATA----YATYPQPGQPYGISSY GALWAGIKTESGLSQSQ
Caenorhabditis elegans SSVTSQYQYNSYPQ----YAMYT- ---------------SA
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 – 592 Eyes absent homolog 1
140 – 144 Missing. In isoform EYA1D.
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P.; Moriniere V.; Marlin S.; Koubi V.; Gabriel H.D.; Colin E.; Bonneau D.; Salomon R.; Antignac C.; Heidet L.;
Hum. Mutat. 32:183-190(2011)
Cited for: VARIANTS BOR1 SER-95; SER-140; VAL-363; GLN-440; PRO-514; CYS-527 AND THR-569;
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