UniProtKB/Swiss-Prot P98161: Variant p.Ser4190Phe

Polycystin-1
Gene: PKD1
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Variant information Variant position:

4190 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 Serine (S) to Phenylalanine (F) at position 4190 (S4190F, p.Ser4190Phe). 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 small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs547854563 [ dbSNP | Ensembl ]

Sequence information Variant position:

4190 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:

KVSPDVPPPSAGSDASHPST S SSQLDGLSVSLGRLGTRCEP 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                         KVSPDVPPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEP

Mouse                         KSSPVVLPPSSGSEASHPSTSSSQPDGPSASLSRSTLKLEP

Caenorhabditis elegans        ----------------APVS-------------------IA

Slime mold                    ----------------HPI--------------------QP

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	4111 – 4303	Cytoplasmic
Region	4160 – 4196	Disordered
Compositional bias	4182 – 4196	Polar residues

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; A complete mutation screen of the ADPKD genes by DHPLC.
Rossetti S.; Chauveau D.; Walker D.; Saggar-Malik A.; Winearls C.G.; Torres V.E.; Harris P.C.;
Kidney Int. 61:1588-1599(2002)
Cited for: VARIANTS PKD1 TRP-1340; LYS-1811; CYS-2092; ILE-2260 DEL; PHE-3167 AND PRO-3852; VARIANTS LEU-61; SER-572; THR-1092; SER-1168; ARG-1399; LEU-1684; ILE-1943; ARG-2638; SER-2674; MET-2708; ARG-2814; LEU-2958; ASN-2977; MET-3057; GLN-3435; VAL-3512; VAL-4045; VAL-4059; SER-4124; ILE-4146 AND PHE-4190;

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.