Mutation designation |
Exon or intron |
Codon predicted change | Domain |
Restriction site change | Refs |
SUR1 | |||||
c.221G > A | Exon 2 | R74Q | Tm | PstI | 41 |
Exon 3 | A116P | Tm | Bbv1 | 28 | |
c.375C > G | Exon 3 | H125Q | – | Ddel | 41 |
Exon 4 | V187D | Tm | 42 | ||
c.563A > G | Exon 4 | N188S | Tm | TspRI | 41 |
Exon 5 | 679 ins 18 nt | 28 | |||
Exon 5 | 731 del a | 28 | |||
Exon 5 | L226 ins 5aa | 28 | |||
Exon 5 | R248X | 28 | |||
c.949delC | Exon 6 | 317fs/ter | Tm | Bsp1286I | 41 |
c.1216A > G | Exon 8 | N406D | – | XcmI | 41 |
Exon 8 | C418R | BglII | 28 | ||
1260 ins31 bases | Exon 8 | Insertion of 31 bp | 28 | ||
Exon 10 | L508P | MspA1, MspBII | 28 | ||
c.1630 + 1G > T | Intron 10 | Aberrant splicing | – | BsrI | 41 |
c.1671–20A > G | Intron 11 | Aberrant splicing | – | SpeI | 43 |
c.1773C > G | Exon 12 | F591L | Tm | BsoFI | 41 |
Exon 13 | R620C | XhoII | 28 | ||
Exon 13 | H627X | 28 | |||
c. 1885 del C | Exon 13 | 28 | |||
c.1893delT | Exon 13 | 631fs/ter | – | BstNI | 41 |
c.2117–1G > A | Intron 15 | Aberrant splicing | NBD-1 | PstI | 41 |
c.2147G > T | Exon 16 | G716V | NBD-1 | BbvI | 43 |
c.2291–1G > A | Intron 18 | Aberrant splicing | NBD-1 | BstNI | 43 |
Exon 21 | R836X | NBD-1 | Bsr1 | 44 | |
Exon 21 | R842G | NBD-1 | Glaseret al, 1999 | ||
c.2860C > T | Exon 24 | Q954X | – | BstNI | 41 |
Exon 24 | S957F | 28 | |||
c.3416C > T | Exon 28 | T1139M | – | NiaIII | 41 |
c.3651–1G > T | Intron 29 | 28 | |||
c.3644G > A | Exon 29 | R1215Q | – | Stu1 | 41 |
c.3992–9G > A | Intron 32 | Aberrant splicing | NciI | 43, 45 | |
c.3992–3C > G | Intron 32 | Aberrant splicing | AvaI | 41 | |
Exon 33 | K1337N | Glaser et al, 1999 | |||
Exon 33 | W1338X | Bstx1 | 29 | ||
c.4058G > C | Exon 33 | R1352P | hHa1 | 46 | |
Exon 33 | V1360M | BsrFI | 28 | ||
c. del4138 CGAC | NBD-2 | 47 | |||
c. 4144 (complex) | NBD-2 | 28 | |||
c.4135G > C | Exon 34 | G1379R | NBD-2 | EagI | 41 |
c.4144G > A | Exon 34 | G1382S | NBD-2 | Bg1I | 41 |
Exon 34 | S1387F | NBD-2 | Mnl1 | 28 | |
c.4162delTTC | Exon 34 | F1388del | NBD-2 | BseRI | 45 |
c.4181G > A | Exon 34 | R1394H | NBD-2 | BflM1 | 41 |
Exon 35 | R1419C | NBD-2 | Hha1 | 28 | |
c.4261C > T | Exon 35 | R1421C | NBD-2 | NiaIII | 28, 46 |
c.4310G > A | Exon 35 | R1437Q(23)X, aberrant splicing | NBD-2 | MspI | 28, 43, 48,49 |
Exon 36 | A1457T | NBD-2 | 42 | ||
ND | Exon 37 | G1479R | NBD-2 | AciI | 28, 50 |
Exon 37 | 4415–13G > A | Nci1 | 28 | ||
Exon 37 | A1493T | Glaseret al, 1999 | |||
c.4480 C> T | Exon 37 | R1494W | NBD-2 | Sma1 | 28, 46 |
Exon 37 | R1494Q | NBD-2 | Glaser et al, 1999 | ||
c.4525ins 4 bases | Exon 37 | Insertion of AlaSer after codon 1508 | NBD-2 | PvuII | 41 |
Exon 37 | F1506K | NBD-2 | 51 | ||
Exon 38 | E1507K | NBD-2 | Mnl1 | 28 | |
Exon 39 | L1544P | 28 | |||
KIR6.2 | |||||
c.649T > C | Exon 1 | L147P | PvuI, Ava1 | 50 | |
Exon 1 | W 91 R | AciI | 29 | ||
c.39C > A | Exon 1 | T12X | BsaAI | 50 |
Tm, putative transmembrane domain (according to Swiss-ProtQ09428); NBD, nucleotide binding domain; ND, no data available; M2 region, one of two potential transmembrane spanning domains; nt nucleotide; bp base pairs.