Variant position: 515 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 725 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 ALAIRDTASYARQMMFTTTL LIVFFTVWIIGGGTTPMLSWL
Mouse ALAIRDTASYARQMMFTTTL LIVFFTVWVIGGGTTPMLSWL
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 – 725 Sodium/hydrogen exchanger 7
514 – 534 Helical
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Khayat W.; Hackett A.; Shaw M.; Ilie A.; Dudding-Byth T.; Kalscheuer V.M.; Christie L.; Corbett M.A.; Juusola J.; Friend K.L.; Kirmse B.M.; Gecz J.; Field M.; Orlowski J.;
Hum. Mol. Genet. 28:598-614(2019)
Cited for: INVOLVEMENT IN MRX108; VARIANT MRX108 PHE-515; CHARACTERIZATION OF VARIANT MRX108 PHE-515; FUNCTION; GLYCOSYLATION AT ASN-145; SUBCELLULAR LOCATION; TOPOLOGY;
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