UniProtKB/Swiss-Prot P49815: Variant p.Arg611Gln

Tuberin
Gene: TSC2
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Variant information Variant position:

611 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Arginine (R) to Glutamine (Q) at position 611 (R611Q, p.Arg611Gln). 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:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

In TSC2 and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420; enhances ubiquitination by MYCBP2. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28934872 [ dbSNP | Ensembl ]

Sequence information Variant position:

611 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1807 The length of the canonical sequence.
Location on the sequence:

VSHIQLHYKHSYTLPIASSI R LQAFDFLLLLRADSLHRLGL 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                         VSHIQLHYK-HSYTLPIASSIRLQAFDFLLLLRADSLHRLGL

Mouse                         ISHIQLHYK-HGYSLPIASSIRLQAFDFLLLLRADSLHRLG

Rat                           ISHIQLHYK-HGYSLPIASSIRLQAFDFLLLLRADSLHRLG

Fission yeast                 CLQFFLRFRANGTSIYICENIDLNE-PFKVLNVDSELIPAV

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
Chain	1 – 1807	Tuberin
Alternative sequence	240 – 1807	Missing. In isoform 8.

Literature citations
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
Nellist M.; Burgers P.C.; van den Ouweland A.M.W.; Halley D.J.J.; Luider T.M.;
Biochem. Biophys. Res. Commun. 333:818-826(2005)
Cited for: PHOSPHORYLATION AT SER-1387; SER-1418 AND SER-1420; IDENTIFICATION BY MASS SPECTROMETRY; INTERACTION WITH HSPA1; HSPA8 AND TSC1; CHARACTERIZATION OF VARIANTS TSC2 TRP-611 AND GLN-611; Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.
Han S.; Witt R.M.; Santos T.M.; Polizzano C.; Sabatini B.L.; Ramesh V.;
Cell. Signal. 20:1084-1091(2008)
Cited for: UBIQUITINATION BY MYCBP2; PHOSPHORYLATION AT SER-540; SER-664; SER-939; THR-1462 AND SER-1798; CHARACTERIZATION OF VARIANT GLN-611; Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
Au K.-S.; Rodriguez J.A.; Finch J.L.; Volcik K.A.; Roach E.S.; Delgado M.R.; Rodriguez E. Jr.; Northrup H.;
Am. J. Hum. Genet. 62:286-294(1998)
Cited for: VARIANTS TSC2 PRO-292; GLN-611; TRP-905; GLU-1084; TRP-1200; VAL-1295; CYS-1549; ILE-1643 AND PHE-1750; Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
Beauchamp R.L.; Banwell A.; McNamara P.; Jacobsen M.; Higgins E.; Northrup H.; Short M.P.; Sims K.; Ozelius L.; Ramesh V.;
Hum. Mutat. 12:408-416(1998)
Cited for: VARIANTS TSC2 ASP-407; GLN-611; MET-826; GLN-905; CYS-1650 AND TYR-1690; Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis.
Jones A.C.; Shyamsundar M.M.; Thomas M.W.; Maynard J.; Idziaszczyk S.A.; Tomkins S.; Sampson J.R.; Cheadle J.P.;
Am. J. Hum. Genet. 64:1305-1315(1999)
Cited for: VARIANTS TSC2 GLU-294; GLN-611; TRP-611; ASP-614; TYR-696; TRP-905; ARG-1497; ASN-1498; MET-1594; LYS-1643; SER-1651; LEU-1675; LYS-1681 AND PRO-1743; Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy Y.S.; Dabora S.L.; Hall F.; Ramesh V.; Niida Y.; Franz D.; Kasprzyk-Obara J.; Reeve M.P.; Kwiatkowski D.J.;
Ann. Hum. Genet. 63:383-391(1999)
Cited for: VARIANTS TSC2 ASN-258; PRO-261; PRO-361; ASP-407; SER-525; GLN-611 AND TRP-611; VARIANTS GLN-309; GLN-367 AND ARG-593; Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y.; Lawrence-Smith N.; Banwell A.; Hammer E.; Lewis J.; Beauchamp R.L.; Sims K.; Ramesh V.; Ozelius L.;
Hum. Mutat. 14:412-422(1999)
Cited for: VARIANTS TSC2 SER-525; MET-599; GLN-611; VAL-895; TYR-1620; LEU-1675 AND THR-1704; Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H.; Nanba E.; Yamamoto T.; Ninomiya H.; Ohno K.; Mizuguchi M.; Takeshita K.;
J. Hum. Genet. 44:391-396(1999)
Cited for: VARIANTS TSC2 ARG-137; PHE-320; GLN-611; ASN-647; ARG-717; GLU-769; MET-963 AND LEU-1675; INVOLVEMENT IN TSC2; Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.
Carsillo T.; Astrinidis A.; Henske E.P.;
Proc. Natl. Acad. Sci. U.S.A. 97:6085-6090(2000)
Cited for: VARIANT LAM GLN-611; Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M.; Girimaji S.C.; Markandaya M.; Shukla A.K.; Sacchidanand S.; Kumar A.;
Acta Neurol. Scand. 111:54-63(2005)
Cited for: VARIANTS TSC2 GLN-611; TRP-611 AND PRO-1027; VARIANTS GLN-367; ARG-1341; ASN-1636 AND LEU-1673;

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.