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UniProtKB/Swiss-Prot P47211: Variant p.Ser334Asn

Galanin receptor type 1
Gene: GALR1
Variant information

Variant position:  334
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 Asparagine (N) at position 334 (S334N, p.Ser334Asn).
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 medium size and polar (N)
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.



Sequence information

Variant position:  334
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  349
The length of the canonical sequence.

Location on the sequence:   YKQVFKCHIRKDSHLSDTKE  S KSRIDTPPSTNCTHV
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                         YKQVFKCHIRKDSHLSDTKESKSRIDTPPSTNCTHV

Mouse                         YKQVFKCHVCDESPRSETKENKSRMDTPPSTNCTHV

Rat                           YKQVFKCRVCNESPHGDAKE-KNRIDTPPSTNCTHV

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.

TypePositionsDescription
Chain 1 – 349 Galanin receptor type 1
Topological domain 293 – 349 Cytoplasmic
Lipidation 320 – 320 S-palmitoyl cysteine


Literature citations

Molecular cloning of a functional human galanin receptor.
Habert-Ortoli E.; Amiranoff B.; Loquet I.; Laburthe M.; Mayaux J.-F.;
Proc. Natl. Acad. Sci. U.S.A. 91:9780-9783(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; VARIANTS CYS-15 AND ASN-334;

Cloning, chromosomal location, and transcriptional regulation of the human galanin-1 receptor gene (GALN1R).
Lorimer D.D.; Matkowskj K.; Benya R.V.;
Biochem. Biophys. Res. Commun. 241:558-564(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS CYS-15 AND ASN-334;

Structural organization of the mouse and human GALR1 galanin receptor genes (Galnr and GALNR) and chromosomal localization of the mouse gene.
Jacoby A.S.; Webb G.C.; Liu M.L.; Kofler B.; Hort Y.J.; Fathi Z.; Bottema C.D.K.; Shine J.; Iismaa T.P.;
Genomics 45:496-508(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASN-334;

Submission
Ross P.C.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-334;

cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Kopatz S.A.; Aronstam R.S.; Sharma S.V.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-334;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ASN-334;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-334;

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.