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 GLLELKAVPAYMTGKLGFIA GVINRERMASFERLLWRICRG
Mouse GLLELRTIPAFMTGKLGFTA GVINRERMASFERLLWRVCRG
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 isoform 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: TISSUE SPECIFICITY; VARIANTS RTADR ASP-175; LYS-237 DEL; HIS-449 AND GLN-807;
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.