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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41968: Variant p.Val44Ile

Melanocortin receptor 3
Gene: MC3R
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Variant information Variant position: help 44
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 44 (V44I, p.Val44Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Polymorphism: help Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity.
Variant description: help Have ligand binding and signaling properties similar to wild-type.
Other resources: help


Sequence information Variant position: help 44
Protein sequence length: help 323
Location on the sequence: help PFFSNQSSSAFCEQVFIKPE V FLSLGIVSLLENILVILAVV
Residue conservation: help 
Human                         PFFSNQSSSAFCEQVFIKPEVFLSLGIVSLLENILVILAVV

Mouse                         PPASNRSGSGFCEQVFIKPEVFLALGIVSLMENILVILAVV

Rat                           PSASNRSGSGFCEQVFIKPEVFLALGIVSLMENILVILAVV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 323 Melanocortin receptor 3
Transmembrane 38 – 63 Helical; Name=1
Glycosylation 28 – 28 N-linked (GlcNAc...) asparagine



Literature citations
Molecular cloning of a novel melanocortin receptor.
Gantz I.; Konda Y.; Tashiro T.; Shimoto Y.; Miwa H.; Munzert G.; Watson S.J.; Delvalle J.; Yamada T.;
J. Biol. Chem. 268:8246-8250(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ILE-44; Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation.
Tao Y.-X.; Segaloff D.L.;
J. Clin. Endocrinol. Metab. 89:3936-3942(2004)
Cited for: CHARACTERIZATION OF VARIANTS ILE-44 AND ASN-146;
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.