UniProtKB/Swiss-Prot O00451: Variant p.Leu462Gln

GDNF family receptor alpha-2
Gene: GFRA2
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Variant information Variant position:

462 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 Leucine (L) to Glutamine (Q) at position 462 (L462Q, p.Leu462Gln). 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 hydrophobic (L) to medium size and polar (Q) 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 rs1128397 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GPSRARPSAALTVLSVLMLK L AL 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                         GPSRARPSAALTVLSVLMLKLAL

Mouse                         GSCRARLSTALTALPLLMVTLAQ

Bovine                        GPRRTRPSAALTAASFLMLKLAL

Chicken                       AGSRHRAARILPAVPIVLLKLLL

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
Propeptide	445 – 464	Removed in mature form
Lipidation	444 – 444	GPI-anchor amidated serine

Literature citations
TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret.
Baloh R.H.; Tansey M.G.; Golden J.P.; Creedon D.J.; Heuckeroth R.O.; Keck C.L.; Zimonjic D.B.; Popescu N.C.; Johnson E.M. Jr.; Milbrandt J.;
Neuron 18:793-802(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; VARIANT GLN-462; Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha.
Suvanto P.; Wartiovaara K.; Lindahl M.; Arumae U.; Moshnyakov M.; Horelli-Kuitunen N.; Airaksinen M.S.; Palotie A.; Sariola H.; Saarma M.;
Hum. Mol. Genet. 6:1267-1273(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT GLN-462; Submission
Yoong L.F.; Too H.P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3); VARIANT GLN-462;

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.