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Table 2 List of identified variations in familial and sporadic CHED cases

From: Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy

CHED Case familial (F) and sporadic (N)

SLC4A11

variations identified (cDNA position)

variations identified (Protein position)

Exon/intron

location

Chromosomal location

Zygosity of each individual

ACMG variants classification*

Literature

status

#Family-1 (F1)

(No. of affected = 3)

c.1514C > G

p.Ser489Trp

Ex.12

20:3,230,258

F1a-Hom

F1b-Hom

F1c-Hom

Father-Het

Mother-Het

Pathogenic

Not Reported

Family-2 (F2)

(No. of affected = 2)

c.529A > C + c.2461insT

p.Arg161Arg + p.Val805fs

Ex.4 + Ex.17

20:3,234,173 + 20:3,228,535

F2a-Com.Het

F2b-Com.Het

Pathogenic

pArg161Arg –Reported [29, 30]

p.Val805fs Not Reported

Sporadic N1

c.1487G > T

p.Ser480Ile

Ex.11

20:3,230,535

N1-Hom

Uncertain significance

Not reported

N2

c.2653C > T

p.Arg869Cys

Ex.18

20:3,228,260

N3-Hom

Likely pathogenic

Reported

[6, 31]

N3

c.620-2A > G

Splice variant

Int.4

20:3,233,991

N2-Hom

Pathogenic

Not Reported

  1. Variation nomenclature was given using Transcript: ENST00000380056.7 SLC4A11-201
  2. Reference: *ACMG guidelines- Richards et.al-2015 [32], ‘#’ = consanguineous marriage