Table 3 of Kodaganur, Mol Vis 2013; 19:1694-1706.

Table 3. Known mutations in the SLC4A11 gene.

Sl.
no. Mutation Exon/ intron (IVS) Nature of mutation State of zygosity Effect on protein Phenotype Number and ethnic origin of family Reference
1 c.99_100delTC (p.S33SfsX18) 2 Deletion Heterozygous Truncation of protein and addition of novel amino acids FECD4 1 Chinese [8]
2 c.140delA(p.Y47SfsX69) 2 Deletion Homozygous Truncation of protein and addition of novel amino acids CHED2 1 Indian [11]
3 c.246_247delTTinsA (p.R82RfsX33) 2 Indel Homozygous Truncation of protein and addition of novel amino acids CHED2 1 Indian [14]
4 c.306delC
(p.G103VfsX13) 3 Deletion Compound heterozygous with an unknown second mutation Truncation of protein and addition of novel amino acids CHED2 1 Indian [11]
5 c.334C>T (p.R112X) 3 Nonsense Homozygous and compound heterozygous with c.2318C>T (p.773L) and c.1751C>A (p.T773K) Truncation of protein CHED2 3 Indian [11]
6 c.353_356delAGAA
(p.K118TfsX11) 4 Deletion Homozygous Truncation of protein and addition of novel amino acids CHED2 2 Indian [4]
7 c.374G>A
(p.R125H) 4 Missense Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 1 Indian [16]
8 c.427G>A
(p.E143K) 4 Missense Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 1 Indian [13]
9 c.520delGCTTCGCC
(p.R158fs) 4 Out-of-frame deletion Homozygous Truncation of
protein CHED2 1 Saudi Arabian [18]
10 c.473_481delGCTTCGCCAinsC
(p.R158PfsX3) 4 Indel Homozygous Truncation of protein and
addition of novel amino acids,
absence of all TMD CHED2 1 Indian [16]
11 c.473_480del8 bp
(p.R158QfsX4) 4 Deletion Homozygous Truncation of protein and
addition of novel amino acids CHED2
and CDPD 2 Indian,
1 Gipsy (Eastern European) [7,11]
12 c.478G> A (p.A160T) 4 Missense Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 2 Indian [14,16]
13 c.501G>C
(p.E167D) 4 Missense Heterozygous Reduction in the mature 120 kDa form, with addition of 100 kDa species FECD4 Northern European
(No. of families not mentioned) [10]
14 c.618_619delAG
(p.V208AfsX38) 5 Deletion Homozygous Truncation of protein and
addition of novel amino acids CHED2 2 Indian [11]
15 c.625C>T
(p.R209W) 5 Missense Homozygous May have an effect on N-terminal cytoplasmic domain CHED2 2 Indian [11]
16 c.637T>C
(p.S213P) 5 Missense Compound heterozygous with
c.2566A>G (p.M856V) May have an effect on N-terminal cytoplasmic domain CDPD 1 Sephardi Jewish [7]
17 c.638C>T
(p.S213L) 5 Missense Homozygous May have an effect on N-terminal cytoplasmic domain CHED2 1 Indian [11]
18 c.654 (−97)_c.778 (−1488)del698
(p.C218KfsX49) 5–6 Deletion Homozygous Truncation of protein and
addition of novel amino acids,
absence of all TMDs CHED2 1 Indian [16]
19 c.743G>A (p.S232N) 6 Missense Compound heterozygous with
c.1033A>T (p.Arg329X) Loss of function or membrane localization CHED2 1 US family of
Chinese ancestry [15]
20 c.697C>T (p.R233C) 6 Missense Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 1 Indian [11]
21 c.720G>A (p.W240X) 6 Nonsense Homozygous Truncation of protein CHED2 1 British [13]
22 c.785C>T (p.T262I) 6 Missense Homozygous Damaging to protein function CHED 2 1 Indian Present study
23 c.806C>T
(p.A269V) 7 Missense Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 2 Indian [16]
24 c.812C>T
(p.T271M) 7 Missense Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 1 Saudi Arabian [17]
25 c.845G>C
(p.R282P) 7 Missense Heterozygous Immature protein FECD4 Northern European
(No. of families not mentioned) [10]
26 c.859_862delGAGA
insCCT
(p.E287PfsX21) 7 Indel Homozygous Truncation of protein and
addition of novel amino acids,
absence of all TMDs CHED2 1 Indian [12]
27 c.878_889del12 p.E293_E296del 7 Deletion Homozygous May have an effect on
N-terminal cytoplasmic
domain CHED2 1 Indian [11]
28 c.1033A>T (p.R329X) 7 Nonsense Compound heterozygous with
c.743G>A (p.Ser232Asn) Premature truncation of the
transcript CHED2 1 US family of
Chinese ancestry [15]
29 c.996+26C_+44Cdel19 IVS-7 Deletion Homozygous Not Known CHED2 2 Indian [11]
30 c.1044+25del19nt IVS-7 Deletion Homozygous Not known CHED2 1 Saudi Arabian [18]
31 c.1091–1G>C IVS-8 Splice site Homozygous Not known CHED2 1 Indian [11]
32 c.1156T>C (p.C386R) 9 Missense Homozygous Disruption of TMD 1 CHED2 4 Indian [13,16,19]
33 c.1228G>C
(p.G394R) 9 Missense Homozygous Disruption of TMD1 CHED2 1 Saudi Arabian [18]
34 c.1195G>A (p.E399K) 9 Missense Heterozygous Aberrant glycosylation and cellular localization FECD4 1 Indian [8]
35 c.1202C>A (p.T401L) 9 Missense Compound heterozygous with c.1418T>G
(p.L473R) Not known CHED2 1 Indian [11]
36 c.1249 G>A (p.G417R) 10 Missense Homozygous Damaging to protein function CHED2 2 Indian Present study
37 c.1253G>A (p.G418D) 10 Missense Homozygous Disruption of TMD 2 CHED2 1 Indian,
1 Saudi Arabian [11,18]
38 c.1317_1322del6ins8
(p.L440VfsX6) 10 Indel Homozygous Truncation of protein and
addition of novel amino acids CHED2 1 Indian [11]
39 c.1378_1381delTACGinsA
(p.Y460_A461 delinsT) 11 Indel Homozygous Not known CDPD 1 Dominican Republican [7]
40 c.1391G>A (p.G464D) 11 Missense Homozygous Conformation change CHED2 3 Pakistani [4]
41 c.1463G>A
(p.R488K) 11 Missense Homozygous Not known CDPD 1 Moroccan [7]
42 c.1466C>T (p.S489L) 12 Missense Homozygous Conformation change CHED2 1 Pakistani, 1 Indian [4,11]
43 c.1577A>G
(p.Y526C) 12 Missense Heterozygous Partial loss of localization at the membrane FECD4 Northern European
(No. of families not mentioned) [10]
44 c.1704_1705delCT (p.H568HfsX177) 13 Deletion Homozygous Truncation of protein and
addition of novel amino acids CHED2 1 Indian [14]
45 c.1723G>A
(p.V575M) 13 Missense Heterozygous Partial loss of localization at the membrane FECD4 Northern European
(No. of families not mentioned) [10]
46 c.1748G>A
(p.G583D) 13 Missense Heterozygous Immature protein FECD4 Northern European
(No. of families not mentioned) [10]
47 c.1751C>A (p.T584K) 13 Missense Homozygous and compound heterozygous with c.334C>T (p.Arg112X) Disruption of TMD 6 CHED2 2 Indian [11]
48 c.1813C>T (p.R605X) 14 Nonsense Homozygous and compound heterozygous with an unknown second mutation Truncation of protein CHED2 6 Indian [4,11,14]
49 c.1831T>C
(p.C611R) 14 Missense Homozygous Damaging to protein function CHED2 1 Indian Present study
50 c.1894G>T (p.E632X) 14 Nonsense Homozygous Truncation of protein CHED2 2 Indian [11,14]
51 IVS15 −6 _ −16
delins GGCCGGCCGG IVS-15 Indel Homozygous Inactivation of
splice
acceptor site CHED2 1 Indian [4]
52 c.2014_2016delTTC
(p.F672del) 15 In-frame deletion Homozygous Disruption of TMD8 CHED2 1 Indian [12]
53 c.2067–6_-16delinsGGCCGGCCGG IVS-15 Splice site Homozygous Inactivation of an acceptor
splice site CHED2 1 Indian Cited in [16]
54 c.2114+1G>A IVS-15 Donor Splice site Homozygous Inclusion of
intron 15 CHED2 1 Saudi Arabian [18]
55 c.2126G>A (p.G709E) 15 Missense Heterozygous Aberrant glycosylation and cellular localization FECD 1 Chinese [8]
56 c.2170 C>G
(p.His724Asp) 15 Missense Homozygous Damaging to protein structure CHED2 1 Indian Present study
57 c.2224G>A
(p.G742R) 16 Missense Heterozygous Reduction in the mature 120-kDa form, with addition of 100-kDa species FECD Northern European
(No. of families not mentioned) [10]
58 c.2233_2240dup
TATGACAC
(p.T747TfsX6) 16 Duplication Compound heterozygous with c.2528T>C
(p.L843P) Aberrantly truncated protein of 916 residues CDPD 1 South American Indian [7]
59 c.2236C>T
(p.R757X) 16 Nonsense Homozygous Protein truncation CHED2 2 Saudi Arabian [18]
60 c.2240 +1G>A IVS-16 Splice site Homozygous and compound heterozygous with an unknown second mutation Inactivation of splice donor site CHED2 1 British,
1 Indian [13,19]
61 c.2261C>T (p.T754M) 17 Missense Heterozygous Aberrant glycosylation and cellular localization FECD4 1 Chinese [8]
62 c.2263C>T
(p.R755W) 17 Missense Homozygous Disruption of TMD 11 CHED2 3 Indian [11,13,16]
63 c.2264G>A (p.R755Q) 17 Missense Homozygous
and compound heterozygous with c.2623C>T (p.Arg875X) Conformation change CHED2 4 Indian,
1 Myanmar [4,11,13,14]
64 c.2318C>T (p.P773L) 17 Missense Homozygous
and compound heterozygous with c.334C>T (p.R112X) Disruption of TMD 11 CHED2 3 Indian [11,16]
65 c.2389_2391delGAT
(p.D797del) 17 Deletion Homozygous Disruption of TMD 12 CHED2 1 Indian [11]
66 c.2398C>T
(p.Q800X) 17 Nonsense Compound heterozygous with
c.2437–1G>A Truncation of protein CHED2 1 British [13]
67 c.2407C>T
(p.Gln803X) 17 Nonsense Homozygous Truncation of protein CHED2 1 Indian [11]
68 c.2411G>A (p.R804H) 18 Missense Homozygous Conformation change CHED2 1 Indian family [14]
69 c.2420delTinsGG (p.L807RfsX71) 18 Missense Homozygous Truncation of protein and
addition of novel amino acids CHED2 1 Indian family [14]
70 c.2423_2454del 32nt
(p.Leu808ArgfsX110) 17 Deletion Compound heterozygous with
c.2528T>C (p.Leu843Pro) Aberrantly truncated protein of 916 residues CDPD 1 Dutch [7]
71 c.2470G>A (p.V824M) 18 Missense Homozygous Not known CHED2 6 Indian [7,11,19]
72 c.2498C>T (p.T833M) 18 Missense Homozygous Conformation change CHED2 2 Indian [14]
73 c.2500G>A
(p.G834S) 18 Missense Heterozygous Immature protein FECD Northern European
(No. of families not mentioned) [10]
74 c.2506 C>T
(p.Q836X) 18 Nonsense Compound heterozygous with c.2318C>T (p.P773L) Truncation of protein CHED2 1 Indian [16]
75 c.2518–2520 delCTG
(p.L840del) 18 In-frame deletion Homozygous Disrupts the appropriate assembly or localization of protein in the membrane CHED2 1 Indian [19]
76 c.2605C>T (p.R869C) 18 Missense Homozygous Conformation change CHED2 3 Indian,
1 Middle
Eastern [4,11,13]
77 c.2606G>A (p.R869H) 18 Missense Homozygous Damaging to protein structure CHED2 3 Indian [14],
Present study
78 c.2618T>C (p.L873P) 19 Missense Homozygous Disruption of TMD 14 CHED2 1 Indian [16]

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