UniProtKB/Swiss-Prot P98161: Variant p.Thr3510Met

Polycystin-1
Gene: PKD1
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Variant information Variant position:

3510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Threonine (T) to Methionine (M) at position 3510 (T3510M, p.Thr3510Met). 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 medium size and polar (T) to medium size and hydrophobic (M) 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
Other resources:

Links to websites of interest for the variant.

Variant rs45478794 [ dbSNP | Ensembl ]

Sequence information Variant position:

3510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

4303 The length of the canonical sequence.
Location on the sequence:

THMETDLLSSLSSTPGEKTE T LALQRLGELGPPSPGLNWEQ 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                         THMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQ

Mouse                         TLLETDLLTSLSSVPGEKTETLILQTVGEERPASMGLSWEQ

Caenorhabditis elegans        -----------------------------------------

Slime mold                    -----------------------------------------

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	24 – 4303	Polycystin-1
Topological domain	3345 – 3559	Cytoplasmic

Literature citations
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
Peral B.; Gamble V.; Strong C.; Ong A.C.M.; Sloane-Stanley J.; Zerres K.; Winearls C.G.; Harris P.C.;
Am. J. Hum. Genet. 60:1399-1410(1997)
Cited for: VARIANTS PKD1 PRO-2993; ARG-3016 AND VAL-3511; VARIANTS MET-3510 AND PHE-4190; Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
Mizoguchi M.; Tamura T.; Yamaki A.; Higashihara E.; Shimizu Y.;
J. Hum. Genet. 46:511-517(2001)
Cited for: INVOLVEMENT IN PKD1; VARIANTS MET-3008 AND MET-3510; Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
Tsuchiya K.; Komeda M.; Takahashi M.; Yamashita N.; Cigira M.; Suzuki T.; Suzuki K.; Nihei H.; Mochizuki T.;
Mutat. Res. 458:77-84(2001)
Cited for: VARIANTS PKD1 ARG-3560; GLN-3719 AND TRP-3753; VARIANT MET-3510; Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S.; Inoue K.; Utsunomiya M.; Nozaki J.; Yamada Y.; Iwasa T.; Mori E.; Yoshinaga T.; Koizumi A.;
Hum. Mutat. 19:622-628(2002)
Cited for: VARIANTS PKD1 ILE-2083; ARG-2814 AND PRO-2816; VARIANTS MET-87 AND MET-3510; Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P.; Lumiaho A.; Miettinen R.; Pihlajamaeki J.; Sandford R.; Laakso M.;
J. Mol. Med. 83:638-646(2005)
Cited for: VARIANTS PKD1 SER-845; MET-3138 AND PRO-3954; VARIANTS HIS-36; ARG-2638; LEU-3066; MET-3510; VAL-3512; VAL-4045 AND VAL-4059;

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.