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Table 1 Variants in genes co-segregating with the disease phenotype

From: Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

Gene

Transcript

Transcript variant

Protein variant

gnomAD v3.1 (MAF)

CADD Phred score

Mutation Taster

Poly-Phen

CACNA1H

NM_021098

c.1441C > T

p.R481C

8/143316

18.2

PM

PrD

GPER1

NM_001039966

c.505C > T

p.R169C

2/143370

26.2

N.A

N.A

SPTBN5

NM_016642

c.8572C > T

p.H2858Y

Absent; present in dbSNP rs887835041

13.9

PM

PrD

NUBP2

NM_012225

c.296C > T

p.P99L

2/143346

22.9

DC

PoD

  1. MAF minor allele frequency, PM polymorphism, DC disease-causing, PrD Probably damaging, PoD Possibly damaging, N.A. Not analysed. gnomAD browser accessed March 2020