UniProtKB/Swiss-Prot Q6ZRF8: Variant p.Gly603Ala

RING finger protein 207
Gene: RNF207
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Variant information Variant position:

603 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 Glycine (G) to Alanine (A) at position 603 (G603A, p.Gly603Ala). 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 glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Polymorphism:

Genetic variation in RNF207 may influence the duration of QT interval, a mesure of cardiac repolarization that depends on multiple environmental and genetic contributors. Prolonged or shortened QT intervals predisposes to ventricular arrhythmias and are a risk factor for sudden cardiac death. Additional information on the polymorphism described.
Variant description:

Associated with prolonged QT interval in heart's electrical cycle; behaves like wild-type in terms of protein expression, subcellular location and shortening of heart's action potential duration, when expressed in neonatal rabbit cardiomyocytes. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs846111 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SVPEKREKTSEPKGNSWAPN G LSEEPLLKNMDHHRSKQKNG 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                         SVPEKREKTSEPKGNSWAPN----------------------------------------------------------------------------GLSEEPLLKNMD------------HHRSKQKNG

Mouse                         CTTEKRDKASEPNGSSWSLS---------------------

Bovine                        -----------------------------------------

Rabbit                        SV---------------------------------------

Zebrafish                     ------NELSCNTEDNWTLN---------------------

Caenorhabditis elegans        TTALKEETASELDAEEFLDEIFELSGEQYDEVVDGTLTEED

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 – 634	RING finger protein 207
Region	552 – 634	Disordered
Alternative sequence	245 – 634	Missing. In isoform 2.
Alternative sequence	372 – 634	Missing. In isoform 3.
Alternative sequence	520 – 634	Missing. In isoform 4.

Literature citations
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Pfeufer A.; Sanna S.; Arking D.E.; Muller M.; Gateva V.; Fuchsberger C.; Ehret G.B.; Orru M.; Pattaro C.; Kottgen A.; Perz S.; Usala G.; Barbalic M.; Li M.; Putz B.; Scuteri A.; Prineas R.J.; Sinner M.F.; Gieger C.; Najjar S.S.; Kao W.H.; Muhleisen T.W.; Dei M.; Happle C.; Mohlenkamp S.; Crisponi L.; Erbel R.; Jockel K.H.; Naitza S.; Steinbeck G.; Marroni F.; Hicks A.A.; Lakatta E.; Muller-Myhsok B.; Pramstaller P.P.; Wichmann H.E.; Schlessinger D.; Boerwinkle E.; Meitinger T.; Uda M.; Coresh J.; Kaab S.; Abecasis G.R.; Chakravarti A.;
Nat. Genet. 41:407-414(2009)
Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE; VARIANTS SER-573 AND ALA-603; RING finger protein RNF207, a novel regulator of cardiac excitation.
Roder K.; Werdich A.A.; Li W.; Liu M.; Kim T.Y.; Organ-Darling L.E.; Moshal K.S.; Hwang J.M.; Lu Y.; Choi B.R.; MacRae C.A.; Koren G.;
J. Biol. Chem. 289:33730-33740(2014)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ALA-603; INTERACTION WITH DNAJA1; HSPA1A; HSPA8 AND KCNH2; AUTOUBIQUITINATION; MUTAGENESIS OF CYS-25;

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.