Table 3 Heterozygous mutations identified in ANO5 in Polish patients.

From: ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

 

cDNA ENST00000324559,8 NM_213599.2

Protein ENSP00000315371.8 NP_998764.1

Type

Effect on protein PolyPhen2/SIFT

Location GRCh38

Frequency in Exac database

ACMG evidence of pathogenicity

Accompanied heterozygous mutations with a predicted damaging effect*

Patient 1

c.242A>G

p.Asp81Gly

missense

probably damaging/ deleterious

11:22221158

2.25e-04

PS4, PM3, PP3, PP4, PP5

BAG3, c.380C>T

p.Ser185Leu; 7.63e-5

FNLC, c.2846A>G

p.Asp949Gly; 3.89e-04

c.1203G>A

p.Trp401Ter

nonsense

stop gained /deleterious

11:22255393

0

PVS1, PM2, PM3, PP3, PP4

Patient 2

c.242A>G

p.Asp81Gly

missense

probably damaging/ deleterious

11:22221158

2.25e-04

PS4, PM3, PP3, PP4, PP5

NEB c.9055G>A

p.Ala3019Thr 6.62e-05

c.2272C>T

p.Arg758Cys

missense

probably damaging/ deleterious

11:22274605

3.30e-05

PS4, PM3, PP3, PP4, PP5

Patient 3

c.69C>A

p.Tyr23Ter

nonsense

stop gained /deleterious

11:22203832

9.84e-06

PVS1, PM2, PM3, PP4

RYR1, 2654G>A

p.Arg885His; 1.77e-04

c.1664G>T

p.Ser555Ile

missense

possibly damaging/ deleterious

11:22262162

7.42e-05

PM3, PP3, PP4

Patient 4

c.395A>T

p.Lys132Met

missense

probably damaging/ deleterious

11:22227333

0

PM2, PM3, PP3, PP4

COL12A1, c.6752G>A

p.Arg2251His; 3.73e-04

FNLC, c.3721C>T p.Arg1241Cys; 1.08e-02

LAMA2, c.2462C>T

p.Thr821Met; 2.03e-03

c.2521C>G

p.His841Asp

missense / splice site

probably damaging/ deleterious

11:22279544

1.67e-05

PM2, PM3, PP3, PP5, PP4

Patient 5

c.191dupA

p.Asn64LysfsTer15

frameshift, essential splice

frameshift/ deleterious

11:22221107

1.03e-03

PVS1, PM3, PP4, PP5

AGRN, c.3353C>A

p.Thr1118Lys; 2.15e-03

ITGA7, c.3371G>A

p.Arg1124Gln; 4.01e-04

ITGA7, c.2656G>A

p.Glu886Lys; 4.01e-03

LAMB2, c.2891G>A

p.Arg964Gln; 2.48e-05

c.2012A>G

p.Tyr671Cys

missense

probably damaging/ deleterious

11:22270425

8.24e-06

PM2, PM3, PP3, PP4

  1. *With at least one prediction program: Mutation Taster, Polyphen2, PROVEAN or SIFT; in italic, mutations not registered in the gnomAD database.
Back to article page