Variant position: 529 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 AVSGAIFCLFAGQPLTILSS TGPVLVFERLLFNFSKDNNFD
Mouse AVSGAIFCLFAGQPLTILSS TGPVLVFERLLFNFSKDHNFD
Rat AVSGAIFCLFAGQPLTILSS TGPVLVFERLLFNFSKDHSFD
Pig AVSGAVFCLFAGQPLTILSS TGPVLVFERLLFNFSKDHNFD
Bovine AVSGAIFCLFAGQPLTILSS TGPVLVFERLLFNFSKDHNFD
Rabbit AVSGAIFCLFAGQPLTILSS TGPVLVFERLLFNFSKDHNFD
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
521 – 521 Cytoplasmic
522 – 542 Discontinuously helical; Name=3
527 – 529 SST -> GFS. Confers anion exchange activity; when associated with E-798; S-842; T-844 and R-847.
527 – 527 S -> C. Severely reduces transporter activity.
536 – 536 E -> Q. 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;
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
Suzuki M.; Vaisbich M.H.; Yamada H.; Horita S.; Li Y.; Sekine T.; Moriyama N.; Igarashi T.; Endo Y.; Cardoso T.P.; de Sa L.C.; Koch V.H.; Seki G.; Fujita T.;
Pflugers Arch. 455:583-593(2008)
Cited for: VARIANT PRTA-OA ARG-530; CHARACTERIZATION OF VARIANTS PRTA-OA SER-342 SER-529; ARG-530 AND PRO-566; FUNCTION; SUBCELLULAR LOCATION;
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.