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]