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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NHX9: Variant p.Gly734Glu

Two pore channel protein 2
Gene: TPCN2
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Variant information Variant position: help 734 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Glycine (G) to Glutamate (E) at position 734 (G734E, p.Gly734Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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

Polymorphism: help Genetic variants in TPCN2 define the skin/hair/eye pigmentation variation locus 10 (SHEP10) [MIM:612267]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Additional information on the polymorphism described.
Variant description: help Associated with SHEP10. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 734 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 752 The length of the canonical sequence.
Location on the sequence: help PEATYQMTVELLFRDILEEP G EDELTERLSQHPHLWLCR 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.
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 – 752 Two pore channel protein 2
Topological domain 695 – 752 Cytoplasmic



Literature citations
NAADP mobilizes calcium from acidic organelles through two-pore channels.
Calcraft P.J.; Ruas M.; Pan Z.; Cheng X.; Arredouani A.; Hao X.; Tang J.; Rietdorf K.; Teboul L.; Chuang K.T.; Lin P.; Xiao R.; Wang C.; Zhu Y.; Lin Y.; Wyatt C.N.; Parrington J.; Ma J.; Evans A.M.; Galione A.; Zhu M.X.;
Nature 459:596-600(2009)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS PRO-564 AND GLU-734; CATALYTIC ACTIVITY; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS PRO-564 AND GLU-734; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 382-752; VARIANTS PRO-564 AND GLU-734; Two newly identified genetic determinants of pigmentation in Europeans.
Sulem P.; Gudbjartsson D.F.; Stacey S.N.; Helgason A.; Rafnar T.; Jakobsdottir M.; Steinberg S.; Gudjonsson S.A.; Palsson A.; Thorleifsson G.; Palsson S.; Sigurgeirsson B.; Thorisdottir K.; Ragnarsson R.; Benediktsdottir K.R.; Aben K.K.; Vermeulen S.H.; Goldstein A.M.; Tucker M.A.; Kiemeney L.A.; Olafsson J.H.; Gulcher J.; Kong A.; Thorsteinsdottir U.; Stefansson K.;
Nat. Genet. 40:835-837(2008)
Cited for: VARIANTS LEU-484 AND GLU-734; ASSOCIATION WITH SHEP10;
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.