Human Genetics Laboratory
Wolfram Syndrome - Base Substitutions
| ID | Location | Description | Change | Consequence | Reference |
|---|---|---|---|---|---|
| Family WS12 | E-4 | c.328T>A | TAC>AAC | Y110N | 40 |
| Family WS2 | E-4 | c.376G>A | GCT>ACT | A126T | 12 |
| Family 7 | E-4 | c.387G>A | TGG>TGA | W129X | 38 |
| 1 | E-4 | c.397G>A | GCC>ACC | A133T | 9 |
| Family WS12 | E-4 | c.397G>A | GCC>ACC | A133T | 40 |
| EE32 | E-4 | c.397G>A | GCC>ACC | A133T | 41 |
| Family B | E-4 | c.406C>T | CAG>TAG | Q136X | 3 |
| 5461 | E-5 | c.505G>A | GAG>AAG | E169K | 3 |
| EE31 | E-5 | c.580C>T | CAG>TAG | Q194X | 41 |
| Family 56 | E-5 | c.631G>A | GAT>AAT | D211N | 29 |
| 641 | E-5 | c.631G>A | GAT>AAT | D211N | 29 |
| WF5 | E-5 | c.631G>A | GAT>AAT | D211N | 27 |
| 2 | E-6 | c.670C>T | CAG>TAG | Q224X | 9 |
| 13062 | E-6 | c.676C>T | CAG>TAG | Q226X | 2 |
| 7944 | E-8 | c.817G>T | GAG>TAG | E273X | 3 |
| 4815 | E-8 | c.817G>T | GAG>TAG | E273X | 3 |
| WS21 | E-8 | c.873C>A | TAC>TAA | Y291X | 37 |
| Family WS7 | E-8 | c.873C>A | TAC>TAA | Y291X | 40 |
| 7944 | E-8 | c.874C>T | CCC>TCC | P292S | 3 |
| 5461 | E-8 | c.887T>G | ATC>AGC | I296S | 3 |
| Family J | E-8 | c.906C>A | TAC>TAA | Y302X | 3 |
| EE33 | E-8 | c.937C>T | CAC>TAC | H313Y | 41 |
| MORL10 | E-8 | c.968A>G | CAC>CGC | H323R | 47 |
| WS11 | E-8 | c.1037C>T | CCG>CTG | P346L | 53d |
| 13885 | E-8 | c.1096C>T | CAG>TAG | Q366X | 2 |
| 13073 | E-8 | c.1096C>T | CAG>TAG | Q366X | 2 |
| WS3 | E-8 | c.1096C>T | CAG>TAG | Q366X | 53 |
| E-8 | c.1096C>T | CAG>TAG | Q366X | 54 | |
| 14 | E-8 | c.1112G.A | TGG>TAG | W371X | 28 |
| Family WS4 | E-8 | c.1113G>A | TGG>TGA | W371X | 40 |
| 2 | E-8 | c.1113G.A | TGG>TGA | W371X | 31 |
| WS11 | E-8 | c.1280T>G | ATC>AGC | I427S | 53 |
| Family E | E-8 | c.1309G>C | GGC>CGC | G437R | 3 |
| Family 4 | E-8 | c.1328G>T | AGC>ATC | S443I | 10 |
| Family WS8 | E-8 | c.1371G>T | AGG>AGT | R457S | 40 |
| Family H | E-8 | c.1433G>A | TGG>TAG | W478X | 3 |
| Family F | E-8 | c.1433G>A | TGG>TAG | W478X | 3 |
| 5514 | E-8 | c.1433G>A | TGG>TAG | W478X | 3 |
| 3 | E-8 | c.1456C>T | CAG>TAG | Q486X | 28 |
| Family WS-5 | E-8 | c.1511C>T | CCG>CTG | P504L | 1 |
| Family WS7 | E-8 | c.1511C>T | CCG>CTG | P504L | 12 |
| E-8 | c.1511C>T | CCG>CTG | P504L | 32 | |
| Family 9 | E-8 | c.1511C>T | CCG>CTG | P504L | 38 |
| Family WS11 | E-8 | c.1511C>T | CCG>CTG | P504L | 40 |
| 18 | E-8 | c.1514G>A | TGC>TAC | C505Y | 28 |
| Family 1 | E-8 | c.1517T>G | CTG>CGG | L506R | 38 |
| 13073 | E-8 | c.1558C>T | CAG>TAG | Q520X | 2 |
| Family WS15 | E-8 | c.1558C>T | CAG>TAG | Q520X | 12 |
| Family WS1 | E-8 | c.1558C>T | CAG>TAG | Q520X | 40 |
| WS2 | E-8 | c.1558C>T | CAG>TAG | Q520X | 53 |
| WS6 | E-8 | c.1558C>T | CAG>TAG | Q520X | 53 |
| 13 | E-8 | c.1584C>G | TAC>TAG | Y528X | 28 |
| 2 | E-8 | c.1602C>G | TAC>TAG | Y534X | 28 |
| W1050 | E-8 | c.1620G>A | TGG>TGA | W540X | 47 |
| 1 | E-8 | c.1628T>G | CTC>CGC | L543R | 28 |
| EE32 | E-8 | c.1628T>G | CTC>CGC | L543R | 41 |
| 1 | E-8 | c.1637T>A | GTC>GAC | V546D | 28 |
| 19 | E-8 | c.1637T>A | GTC>GAC | V546D | 28 |
| 10 | E-8 | c.1673G>A | CGC>CAC | R558H | 28 |
| Family 3 | E-8 | c.1673G>A | CGC>CAC | R558H | 38 |
| WS9 | E-8 | c.1673G>A | CGC>CAC | R558H | 53 |
| WS8 | E-8 | c.1672C>T | CGC>TGC | R558C | 53 |
| 17 | E-8 | c.1816G>C | GTG>CTG | V606L | 28 |
| WF5 | E-8 | c.180C>G | CCC>CGC | P607R | 27 |
| Family 6 | E-8 | c.1838G>A | TGG>TAG | W613X | 38 |
| Family 56 | E-8 | c.1839G>A | TGG>TGA | W613X | 29 |
| E-8 | c.1885C>T | CGG>TGG | R629W | 19 | |
| Family WS14 | E-8 | c.1944G>A | TGG>TGA | R629W | 40 |
| 2 | E-8 | c.1944G>A | TGG>TGA | R629W | 31 |
| Family WS-4 | E-8 | c.1944G>A | TGG>TGA | W648X | 1 |
| Family D | E-8 | c.1944G>A | TGG>TGA | W648X | 3 |
| Family WS15 | E-8 | c.1980C>G | TAC>TAG | Y660X | 40 |
| Family T | E-8 | c.1999C>T | CAG>TAG | Q667X | 3 |
| E-8 | c.1999C>T | CAG>TAG | Q667X | 36 | |
| WS7 | E-8 | c.1999C>T | CAG>TAG | Q667X | 53 |
| Family H | E-8 | c.2002C>T | CAG>TAG | Q668X | 3 |
| 13076 | E-8 | c.2006A>G | TAT>TGT | Y669C | 2 |
| Family 3 | E-8 | c.2051C>T | GCG>GTG | A684V | 10a |
| Family 81 | E-8 | c.2051C>T | GCG>GTG | A684V | 29 |
| 5461 | E-8 | c.2068T>C | TGC>CGC | C690R | 3 |
| Family WS-4 | E-8 | c.2084G>T | GGC>GTC | G695V | 1 |
| 3328 | E-8 | c.2100G>T | TGG>TGT | W700C | 3 |
| Family 4 | E-8 | c.2100G>T | TGG>TGT | W700C | 38 |
| Family 5 | E-8 | c.2099G>A | TGG>TAG | W700X | 40 |
| E-8 | c.2149G>A | GAG>AAG | E717K | 32 | |
| Family WS-3 | E-8 | c.2171C>T | CCG>CTG | P724L | 1 |
| Family J | E-8 | c.2206G>A | GGC>AGC | G736S | 3 |
| Family WS6 | E-8 | c.2206G>A | GGC>AGC | G736S | 40 |
| WS25 | E-8 | c.2206G>C | GGC>CGC | G736R | 37b |
| 3328 | E-8 | c.2254G>T | GAG>TAG | E752X | 3 |
| 1519 | E-8 | c.254G>T | GAG>TAG | E752X | 3 |
| Family 4 | E-8 | c.254G>T | GAG>TAG | E752X | 38 |
| Family 2 | E-8 | c.2327A>T | GAG>GTG | E776V | 38 |
| Family WS19 | E-8 | c.2338G>C | GGC>CGC | G780R | 12 |
| 19 | E-8 | c.2378G>C | CGC>CCC | R793P | 28 |
| Family WS4 | E-8 | c.2452C>T | CGC>TGC | R818C | 12 |
| Family 8 | E-8 | c.2452C>T | CGC>TGC | R818C | 38c |
| 13062 | E-8 | c.2455C>T | CAG>TAG | Q819X | 2 |
| WS3 | E-8 | c.2513C>T | CCT>CTT | P838L | 53 |
| Family 52 | E-8 | c.2578C>G | CAC>GAC | H860D | 38 |
| Family 3 | E-8 | c.2590G>T | GAG>TAG | E864X | 38 |
| Family 148 | E-8 | c.2590G>A | GAG>AAG | E864K | 49 |
| Family WS13 | E-8 | c.2601G>A | TGG>TGA | W867X | 40 |
| MORL11 | E-8 | c.2602CC>G | CGC>GGC | R868G | 47 |
| 1709 | E-8 | c.2654C>T | CCA>CTA | P885L | 3 |
| 13775 | I-4 | IVS4+1G>A | Splice | 2 | |
| WF1 | I-4 | IVS4+1G>A | Splice | 27 | |
| Family WS10 | I-7 | IVS7+1G>A | Splice | 40 |
a: Described as probable neutral changes. However, since they are absent in the control chromosomes and they affect the conserved amino acid, it is possible that it represents a mutation rather than polymorphisms.
b: Originally described as G736A.
c: Described as mutation in a family with homozygous 344insAFF mutation.
d: Manuscript lists nucleotide numbering as 1067
