UniProtKB/Swiss-Prot P41220: Variant p.Met5Val

Regulator of G-protein signaling 2
Gene: RGS2
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Variant information Variant position:

5 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 Methionine (M) to Valine (V) at position 5 (M5V, p.Met5Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

Found in hypertensive patients; likely benign; no effect on down-regulation of angiotensin-activated signaling pathway. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs193051407 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MQSA M FLAVQHDCRPMDKSAGSGHK 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                         MQSAMFLAVQHDC---RPMDKSAGSGHK

Mouse                         MQSAMFLAVQHDC---VPMDKSAGN

Rat                           MQSAMFLAVQHDC---VPMDKSAGN

Pig                           MQSAMFLTVHHDC---GPMDKSAGT

Bovine                        MQSALFLAVQHEC---GPMDKGAGT

Caenorhabditis elegans        -----MRLLTCDC---TFMGQKHSG

Baker's yeast                 -----MASVPSLCDILIPLEKNSRS

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 – 211	Regulator of G-protein signaling 2
Alternative sequence	1 – 32	Missing. In isoform 4.
Alternative sequence	1 – 15	Missing. In isoform 3.
Mutagenesis	1 – 1	M -> L. Loss of isoform 1 expression.
Mutagenesis	5 – 5	M -> L. Loss of isoform 2 expression.
Mutagenesis	16 – 16	M -> L. Loss of isoform 3 expression.

Literature citations
Human missense mutations in regulator of G protein signaling 2 affect the protein function through multiple mechanisms.
Phan H.T.N.; Sjoegren B.; Neubig R.R.;
Mol. Pharmacol. 92:451-458(2017)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH GNAQ; CHARACTERIZATION OF VARIANTS ARG-2; LEU-2; GLY-3; VAL-4; VAL-5; ASN-18; ASP-23; TYR-40; HIS-44; LYS-50; LEU-55; HIS-78; GLY-99; VAL-110; HIS-188 AND ARG-196; Genetic variations of regulator of G-protein signaling 2 in hypertensive patients and in the general population.
Yang J.; Kamide K.; Kokubo Y.; Takiuchi S.; Tanaka C.; Banno M.; Miwa Y.; Yoshii M.; Horio T.; Okayama A.; Tomoike H.; Kawano Y.; Miyata T.;
J. Hypertens. 23:1497-1505(2005)
Cited for: VARIANTS ARG-2; LEU-2; VAL-5; HIS-44 AND HIS-78; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANTS ARG-2; LEU-2; GLY-3; VAL-4; VAL-5; ASN-18; ASP-23; TYR-40; HIS-44; LYS-50; LEU-55; GLY-99; VAL-110; HIS-188 AND ARG-196;

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.