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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06495: Variant p.Cys336Gly

Sodium-dependent phosphate transport protein 2A
Gene: SLC34A1
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Variant information Variant position: help 336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Glycine (G) at position 336 (C336G, p.Cys336Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 639 The length of the canonical sequence.
Location on the sequence: help SMSRAEANSSQTLGNATMEK C NHIFVDTGLPDLAVGLILLA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SMSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLA

Mouse                         SMSRVEAIGS--LANTTMEKCNHIFVDTGLPDLAVGLILLA

Rat                           SMSRVEAIGS--LANTTMEKCNHIFVDTGLPDLAVGLILLA

Rabbit                        SMARAETNISRTHGNATMEKCNHIFVDTQLPDLAVGLILLA

Sheep                         PMPRAEANTSRMLRNATLEKCNHIFVDTGLPDLAVGLILLA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 639 Sodium-dependent phosphate transport protein 2A
Topological domain 186 – 347 Extracellular
Glycosylation 323 – 323 N-linked (GlcNAc...) asparagine
Glycosylation 330 – 330 N-linked (GlcNAc...) asparagine
Disulfide bond 225 – 522
Disulfide bond 306 – 336
Alternative sequence 313 – 639 APTSMSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNIGTTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFLEELPPATPSPRLALPAHHNATRL -> QNLEGREITHFDLRKKQAMEDSSVPHCP. In isoform 2.



Literature citations
Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia.
Schlingmann K.P.; Ruminska J.; Kaufmann M.; Dursun I.; Patti M.; Kranz B.; Pronicka E.; Ciara E.; Akcay T.; Bulus D.; Cornelissen E.A.; Gawlik A.; Sikora P.; Patzer L.; Galiano M.; Boyadzhiev V.; Dumic M.; Vivante A.; Kleta R.; Dekel B.; Levtchenko E.; Bindels R.J.; Rust S.; Forster I.C.; Hernando N.; Jones G.; Wagner C.A.; Konrad M.;
J. Am. Soc. Nephrol. 27:604-614(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TRANSPORTER ACTIVITY; INVOLVEMENT IN HCINF2; VARIANTS HCINF2 91-VAL--ALA-97 DEL; ALA-153; VAL-153; PRO-155; TRP-215; GLY-336; GLU-408 AND ARG-488; CHARACTERIZATION OF VARIANTS HCINF2 91-VAL--ALA-97 DEL; ALA-153; VAL-153; PRO-155; GLY-336; GLU-408 AND ARG-488;
Disclaimer: 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.