Variant position: 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 840 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 GLLELKAVPAYMTGKLG------FIA GVINRERMASFERLLWRICRG
Mouse GLLELRTIPAFMTGKLG------FTA GVINRERMASFERLL
Caenorhabditis elegans GLPSSNEMP--LTPLLGSDDNAWFVA GVLPLDKKESFERVL
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 – 840 V-type proton ATPase 116 kDa subunit a 4
1 – 390 Cytoplasmic
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover E.H.; Borthwick K.J.; Bavalia C.; Eady N.; Fritz D.M.; Rungroj N.; Giersch A.B.S.; Morton C.C.; Axon P.R.; Akil I.; Al-Sabban E.A.; Baguley D.M.; Bianca S.; Bakkaloglu A.; Bircan Z.; Chauveau D.; Clermont M.-J.; Guala A.; Hulton S.A.; Kroes H.; Li Volti G.; Mir S.; Mocan H.; Nayir A.; Ozen S.; Rodriguez Soriano J.; Sanjad S.A.; Tasic V.; Taylor C.M.; Topaloglu R.; Smith A.N.; Karet F.E.;
J. Med. Genet. 39:796-803(2002)
Cited for: FUNCTION; VARIANTS DRTA3 ASP-175; LYS-237 DEL; HIS-449 AND GLN-807;
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