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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HCD6: Variant p.Arg760Cys

Protein TANC2
Gene: TANC2
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Variant information Variant position: help 760 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 Arginine (R) to Cysteine (C) at position 760 (R760C, p.Arg760Cys). 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 large size and basic (R) to medium size and polar (C) 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 IDDALDS; reduced interaction with KIF1A; impaired neuronal dense core vesicles transport; no effect on dendritic spine location. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 760 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1990 The length of the canonical sequence.
Location on the sequence: help DFQQRMENLSMFLIKRRDMT R MFVHPSFREWLIWREEGEKT 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                         DFQQRMENLSMFLIKRRDMTRMFVHPSFREWLIWREEGEKT

Mouse                         DFQQRMENLSMFLIKRRDMTRMFVHPSFREWLIWREEGEKT

Rat                           DFQQRMENLSMFLIKRRDMTRMFVHPSFREWLIWREEGEKT
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 – 1990 Protein TANC2



Literature citations
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT IDDALDS CYS-760; Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-alpha/TANC2 Recruits DCVs to Postsynaptic Sites.
Stucchi R.; Plucinska G.; Hummel J.J.A.; Zahavi E.E.; Guerra San Juan I.; Klykov O.; Scheltema R.A.; Altelaar A.F.M.; Hoogenraad C.C.;
Cell Rep. 24:685-700(2018)
Cited for: CHARACTERIZATION OF VARIANTS IDDALDS CYS-760 AND 1066-ARG--VAL-1990 DEL; INTERACTION WITH KIF1A; SUBCELLULAR LOCATION; FUNCTION; Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H.; Bettella E.; Marcogliese P.C.; Zhao R.; Andrews J.C.; Nowakowski T.J.; Gillentine M.A.; Hoekzema K.; Wang T.; Wu H.; Jangam S.; Liu C.; Ni H.; Willemsen M.H.; van Bon B.W.; Rinne T.; Stevens S.J.C.; Kleefstra T.; Brunner H.G.; Yntema H.G.; Long M.; Zhao W.; Hu Z.; Colson C.; Richard N.; Schwartz C.E.; Romano C.; Castiglia L.; Bottitta M.; Dhar S.U.; Erwin D.J.; Emrick L.; Keren B.; Afenjar A.; Zhu B.; Bai B.; Stankiewicz P.; Herman K.; Mercimek-Andrews S.; Juusola J.; Wilfert A.B.; Abou Jamra R.; Buettner B.; Mefford H.C.; Muir A.M.; Scheffer I.E.; Regan B.M.; Malone S.; Gecz J.; Cobben J.; Weiss M.M.; Waisfisz Q.; Bijlsma E.K.; Hoffer M.J.V.; Ruivenkamp C.A.L.; Sartori S.; Xia F.; Rosenfeld J.A.; Bernier R.A.; Wangler M.F.; Yamamoto S.; Xia K.; Stegmann A.P.A.; Bellen H.J.; Murgia A.; Eichler E.E.;
Nat. Commun. 10:4679-4679(2019)
Cited for: INVOLVEMENT IN IDDALDS; VARIANTS IDDALDS HIS-755; CYS-760; VAL-794; GLN-961; 1066-ARG--VAL-1990 DEL; 1400-GLN--VAL-1990 DEL; 1483-GLN--VAL-1990 DEL AND ARG-1689;
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.