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UniProtKB/Swiss-Prot P55851: Variant p.Ser282Cys

Dicarboxylate carrier SLC25A8
Gene: UCP2
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Variant information Variant position: help 282
Type of variant: help LB/B
Residue change: help From Serine (S) to Cysteine (C) at position 282 (S282C, p.Ser282Cys).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (C)
BLOSUM score: help -1
Polymorphism: help Genetic variations in UCP2 define the body mass index quantitative trait locus 4 (BMIQ4) [MIM:607447]. A common polymorphism in the promoter of UCP2 has been shown to be associated with a decreased risk of obesity in middle-aged individuals.
Other resources: help


Sequence information Variant position: help 282
Protein sequence length: help 309
Location on the sequence: help QKEGPRAFYKGFMPSFLRLG S WNVVMFVTYEQLKRALMAAC
Residue conservation: help 
Human                         QKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAC

                              QKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAC

Mouse                         RKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAY

Rat                           RKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAY

Pig                           QKEGPRAFYKGFTPSFLRLGSWNVVMFVTYEQLKRALMAAR

Bovine                        QKEGPQAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAR

Zebrafish                     TKKGPKAFFKGFMPSFLRLGSWNVVMFVTYEQLKRAMMAAR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 309 Dicarboxylate carrier SLC25A8
Transmembrane 269 – 294 Helical; Name=6
Repeat 212 – 297 Solcar 3
Region 278 – 285 Important for interaction with long-chain fatty acids



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-55; GLN-76; GLN-154; GLY-268 AND CYS-282;
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.