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Kresge Hearing Research Institute

Department of Otolaryngology

Human Genetics Laboratory

Human Genetics Menu

Human Genetics Laboratory

Non-Synonymous Sequence Polymorphisms

Location Description Change Consequence dbSNP rs#
(cluster ID)		 Reference
E-2 c.16G>A GCT>ACT A6T   39
E-2 c.41A>G CAG>CGG Q14R   29, 39
E-3 c.173C>T GCG>GTG A58V   12
E-4 c.319G>A GGG>AGG G107R   14
E-4 c.325C>T CAC>TAC H109Y   29
E-4 c.350C>T ACG>ATG T117M   29
E-4 c.449C>T GCG>GTG A150V   51
E-5 c.577A>C AAG>CAG K193Q   16, 17a
E-5 c.632A>G GAT>GGT D211G   42
E-6 c.709G>A GAG>AAG E237K   39
E-6 c.713C>G   S238C   42k
E-8 c.976G>T GCG>TCG A326S   51
E-8 c.977C>T GCG>GTG A326V   40
E-8 c.997A>G ATC>GTC I333V rs1801212 1-3, 5, 10, 13-16,
18, 20, 21, 25,
26, 28, 29, 30,
38, 40, 53
E-8 c.1015G>A GAC>AAC D339N   51l
E-8 c.1020C>A TTC>TTA F340L   26
E-8 c.1024G>A GCG>ACC A342T   51o
E-8 c.1147C>T CGC>TGC R383C   39
E-8 c.1153G>A GAG>AAG E385K   29
E-8 c.1234G>C GTC>CTC V412L   39
E-8 c.1235T>C GTC>GCC V412A   39, 52
E-8 c.1263C>G ATC>ATG I421M   51m
E-8 c.1277G>C TGC>TCC C426S   51
E-8 c.1294C>G CTG>GTG L432V   11b, 15b, 21, 29d,
30
E-8 c.1346C>T ACC>ATC T449I   38g
E-8 c.1364C>T ACG>ATG T455M   21e
E-8 c.1367G>A CGC>CAC R456H rs1801208 1, 3, 7, 8,
13, 15, 16, 21,
29, 38, 39, 40, 53
E-8 c.1495C>T CTC>TTC L499F   15b, 29
E-8 c.1508T>G GTC>GGC V503G   39
E-8 c.1675G>A GCC>ACC A559T   4, 11b, 15b, 20,
38f
E-8 c.1726G>A GGC>AGC G576S rs1805069 7, 8, 11b, 24 b,
29, 39
E-8 c.1779G>C GAG>GAC E593D   29
E-8 c.1805C>T GCG>GTG A602V rs2230720 11b, 29
E-8 c.1832A>G CAC>CGC H611R rs734312 1-8, 10, 14, 15,
16, 18, 20, 21,
24, 28, 29, 30,
35, 38, 39, 40, 52, 53
E-8 c.926G>T GCC>TCC A642S   26
E-8 c.1942T>C TGG>CGG W648R   16
E-8 c.1990C>G CTG>GTG L664V   26
E-8 c.2012C>T GCG>GTG A671V   15b, 29, 38f
E-8 c.2020G>A GGG>AGG G674R   12
E-8 c.2122C>T CGC>TGC R708C   10
E-8 c.2158A>G
 ATC>GTC
 I720V rs1805070 7, 8, 29, 39, 52
E-8 c.2194C>T CGC>TGC R732C   29
E-8 c.2209G>A GAG>AAG E737K   7, 12, 23a, 29,
39
E-8 c.2335G>A GTG>ATG V779M   13a, 29
E-8 c.2404A>G ATC>GTC I802V   40
E-8 c.2438T>C GTG>GCG V813A   21
E-8 c.2452C>T CGC>TGC R818C   11b, 12f, 17b, 25,
38
E-8 c.2507A>G AAG>AGG K836R   51n
E-8 c.2596G>A GAC>AAC D866N   11b, 23a, 29, 39
E-8 c. 2611G>A GTG>ATG V871M   11b, 14, 15, 21c,
40

a: Reported as Mutation in LFSNHL

b: Reported as Mutation in Psychiatric disorder

c: Reported as Mutation in Diabetes Melltus and deafness

d: Found in a patient with Meniere's disease

e: Described as Y455Y and confirmed with the authors as T455M

f: Described as a Wolfram syndrome mutation

g: Found in Wolfram syndrome in addition to W129X on the same allele

i: Found in father only

lReported as D339A in manuscript

mReported as I421T in manuscript

nReported as K836K in manuscript

oReported as c.1026G>A in manuscript