Variant position: 7 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 167 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 MLVLLA FIIAFHITSAALLFIATVDNA
Chimpanzee MLVLLA FIIAFHITSAALLFIATIDNA
Mouse MLVILA FIIVFHIVSTALLFISTIDNA
Rat MLVILA FIIVFHIVSTALLFISTIDNA
Bovine MLVLLA FIIVFHITSAALLLVATIDNA
Zebrafish MLVILA FIILFHITSAILLFIATINNA
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 – 167 Epithelial membrane protein 2
1 – 21 Helical
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Gee H.Y.; Ashraf S.; Wan X.; Vega-Warner V.; Esteve-Rudd J.; Lovric S.; Fang H.; Hurd T.W.; Sadowski C.E.; Allen S.J.; Otto E.A.; Korkmaz E.; Washburn J.; Levy S.; Williams D.S.; Bakkaloglu S.A.; Zolotnitskaya A.; Ozaltin F.; Zhou W.; Hildebrandt F.;
Am. J. Hum. Genet. 94:884-890(2014)
Cited for: FUNCTION; INVOLVEMENT IN NPHS10; VARIANTS NPHS10 LEU-7 AND THR-10; CHARACTERIZATION OF VARIANTS NPHS10 LEU-7 AND THR-10;
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.