Variant position: 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 287 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 EAVPKSLGASESSYTSVNRG PPLDRAEVYSSKLQD
Mouse EAVPKTLGTSEPSYSSVNRG PPLDRAEVFSSKLQD
Bovine EAVPKSLGTSEPSYTSVNRG PSLDRAEVYASKLQD
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.
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
Jenkins D.; Bitner-Glindzicz M.; Malcolm S.; Hu C.-C.A.; Allison J.; Winyard P.J.D.; Gullett A.M.; Thomas D.F.M.; Belk R.A.; Feather S.A.; Sun T.-T.; Woolf A.S.;
J. Am. Soc. Nephrol. 16:2141-2149(2005)
Cited for: VARIANT LEU-273; POSSIBLE INVOLVEMENT IN KIDNEY AND URINARY TRACT ANOMALIES; CHARACTERIZATION OF VARIANT LEU-273;
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