Table 5 Characterization of UCP3 gene variants predicted by variant effect predictor.

From: UCP3 gene variants and obesity in a Pakistani sample population

Position (REF > ALT)

Mutation type

Localization

Protein position

Amino acid

Codons

dbSNP

73711477 (A > G)

3 prime UTR variant

Exon 7

-

-

-

rs15763

73711483 (T > TG)

3 prime UTR variant

Exon 7

-

-

-

rs11372420

73711483 (T > TGG)

3 prime UTR variant

Exon 7

-

-

-

rs11372420

73712020 (A > G)

3 prime UTR variant

Exon 7

-

-

-

rs647126

73712708 (G > GTC)

Intron variant

Intron 6

-

-

-

rs3837411

73712720 (CT > C)

Intron variant

Intron 6

-

-

-

rs35517703

73712720 (CT > CTCTT)

Intron variant

Intron 6

-

-

-

rs1554998663

73712720 (CT > CTT)

Intron variant

Intron 6

-

-

-

COSV58368831

73712720 (CT > CTTT)

Intron variant

Intron 6

-

-

-

COSV58368831

73712770 (GA > GAA)

Intron variant

Intron 6

-

-

-

Novel

73712824 (C > T)

Intron variant

Intron 6

-

-

-

rs11235970

73712859 (T > C)

Intron variant

Intron 6

-

-

-

rs1685356

73713129 (T > C)

Intron variant

Intron 6

-

-

-

rs2632723

73713156 (C > G)

Intron variant

Intron 6

-

-

-

rs2734829

73713156 (C > T)

Intron variant

Intron 6

-

-

-

rs2734829

73713223 (A > G)

Intron variant

Intron 6

-

-

-

rs1685355

73713442 (T > C)

Intron variant

Intron 6

-

-

-

rs1726745

73713560 (T > C)

Intron variant

Intron 6

-

-

-

rs11235971

73713591 (A > G)

Intron variant

Intron 6

-

-

-

rs1685354

73713960 (G > A)

Intron variant

Intron 6

-

-

-

rs3741135

73714339 (G > A)

Intron variant

Intron 6

-

-

-

rs1626521

73714562 (G > A)

Intron variant

Intron 6

-

-

-

rs1565125

73715115 (T > G)

Intron variant

Intron 5

-

-

-

rs45554534

73715134 (C > T)

Intron variant

Intron 5

-

-

-

rs1726743

73715542 (G > A)

Synonymous variant

Exon 5

210

Y

taC/taT

rs2075577

73715666 (G > A)

Intron variant

Intron 4

-

-

-

rs2734828

73715707 (G > T)

Intron variant

Intron 4

-

-

-

rs6413538

73716101 (T > C)

Intron variant

Intron 4

-

-

-

rs182913075

73716277 (G > A)

Intron variant

Intron 4

-

-

-

rs2734827

73716469 (A > G)

Intron variant

Intron 4

-

-

-

rs3781907

73716530 (G > A)

Intron variant

Intron 4

-

-

-

rs142107918

73716530 (G > C)

Intron variant

Intron 4

-

-

-

rs142107918

73717024 (A > T)

Intron variant

Intron 3

-

-

-

rs1726747

73717025 (T > C)

Intron variant

Intron 3

-

-

-

rs1685325

73717074 (G > A)

Intron variant

Intron 3

-

-

-

rs11235972

73717121 (C > T)

Intron variant

Intron 3

-

-

-

rs2075576

73717254 (A > G)

Synonymous variant

Exon 3

99

Y

taT/taC

rs1800006

73717567 (C > G)

Intron variant

Intron 2

-

-

-

rs1685326

73718332 (C > T)

Intron variant

Intron 1

-

-

-

rs143098507

73718482 (CTTT > C)

Intron variant

Intron 1

-

-

-

rs928421426

73718482 (CTTT > CTT)

Intron variant

Intron 1

-

-

-

Novel

73718482 (CTTT > CTTTT)

Intron variant

Intron 1

-

-

-

Novel

73720165 (G > A)

5 prime UTR variant

Exon 1

-

-

-

rs1800849

  1. The annotation of 43 selected variants in the UCP3 gene, analyzed using the variant effect predictor tool. The table includes information on the genomic position, mutation type, exon/intron location, protein, amino acid, and codon changes, and existing variant identifiers (if available). Variants labeled as “Novel” indicate that they were not previously reported in major databases. The dbSNP IDs of the variants exclusive to cases (individuals with obesity) and the variants labelled as Novel are shown in bold. Abbreviations: dbSNP, single nucleotide polymorphism database; REF, reference allele; ALT, alternate allele; untranslated region, UTR.
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