Variant position: 554 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 VFERLLFNFSKDNNFDYLEF RLWIGLWSAFLCLILVATDAS
Mouse VFERLLFNFSKDHNFDYLEF RLWIGLWSAFMCLVLVATDAS
Rat VFERLLFNFSKDHSFDYLEF RLWIGLWSAFMCLILVATDAS
Pig VFERLLFNFSKDHNFDYLEF RLWIGLWSAFLCLILVATDAS
Bovine VFERLLFNFSKDHNFDYLEF RLWIGLWSAFLCLILVATDAS
Rabbit VFERLLFNFSKDHNFDYLEF RLWIGLWSAFLCLILVATDAS
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
551 – 571 Helical; Name=4
536 – 536 E -> Q. Prevents membrane targeting.
552 – 552 E -> N. Prevents membrane targeting.
554 – 554 R -> D. Prevents membrane targeting.
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
Igarashi T.; Inatomi J.; Sekine T.; Cha S.H.; Kanai Y.; Kunimi M.; Tsukamoto K.; Satoh H.; Shimadzu M.; Tozawa F.; Mori T.; Shiobara M.; Seki G.; Endou H.;
Nat. Genet. 23:264-266(1999)
Cited for: VARIANTS PRTA-OA SER-342 AND HIS-554;
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
Li H.C.; Szigligeti P.; Worrell R.T.; Matthews J.B.; Conforti L.; Soleimani M.;
Am. J. Physiol. 289:F61-F71(2005)
Cited for: VARIANTS PRTA-OA SER-342; LEU-471 AND HIS-554; MUTAGENESIS OF GLU-135;
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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