Variant position: 925 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1079 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 LYGVFLYMGVASLNGVQFMD RLKLLLMPLKHQPDFIYLRHV
Mouse LYGVFLYMGVASLNGVQFMD RLKLLLMPLKHQPDFIYLRHV
Rat LYGVFLYMGVASLNGVQFMD RLKLLLMPLKHQPDFIYLRHV
Pig LYGVFLYMGVASLNGVQFMD RLKLLLMPLKHQPDFIYLRHV
Bovine LYGVFLYMGVASLNGVQFMD RLKLLLMPLKHQPDFIYLRHV
Rabbit LYGVFLYMGVASLNGVQFMD RLKLLLMPLKHQPDFIYLRHV
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 – 1079 Electrogenic sodium bicarbonate cotransporter 1
919 – 960 Cytoplasmic
691 – 1079 Missing. In isoform 3.
925 – 927 RLK -> NLN. Prevents membrane targeting.
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
Horita S.; Yamada H.; Inatomi J.; Moriyama N.; Sekine T.; Igarashi T.; Endo Y.; Dasouki M.; Ekim M.; Al-Gazali L.; Shimadzu M.; Seki G.; Fujita T.;
J. Am. Soc. Nephrol. 16:2270-2278(2005)
Cited for: VARIANTS PRTA-OA SER-342; SER-529; HIS-554; VAL-843 AND CYS-925;
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