Location | Positiona | Reference Alleleb | Variant Allele | Amino Acid Substitution | Genotype | Frequency of Variant Allele | ||||
---|---|---|---|---|---|---|---|---|---|---|
R/R | R/V | V/V | ||||||||
5′-Flanking region | -20445 | gtctCctcc | gtctTctcc | 98 | 2 | 0 | 0.010 | |||
-20296 | agctAttaa | agctGttaa | 80 | 18 | 2 | 0.110 | ||||
-19781 | aaaaAttat | aaaaGttat | 99 | 1 | 0 | |||||
-19572_-19569 | ctcaCTCAcaaa | ctca—caaa | 60 | 33 | 7 | 0.235 | ||||
Exon 2 | 34 | cccaGtgtc | cccaAtgtc | Val12Met | 70 | 24 | 6 | 0.180 | ||
Intron 2 | 203 + 16 | tttaAttta | tttaGttta | 70 | 24 | 6 | 0.180 | |||
Intron 3 | 263 + 10 | tataAgaga | tataGgaga | 85 | 14 | 1 | 0.080 | |||
263 + 72 | ttttGtgtg | ttttTGtgtg | 99 | 1 | 0 | 0.005 | ||||
Exon 4 | 376 | ggtaCaagt | ggtaTaagt | Gln126stop | 98 | 2 | 0 | 0.010 | ||
Exon 5 | 421 | cttaCagtt | cttaAagtt | Gln141Lys | 42 | 45 | 13 | 0.355 | ||
Intron 5 | 532-16 | ttatAatat | ttatGatat | 99 | 1 | 0 | 0.005 | |||
Exon 9 | 1098 | aggaGatca | aggaAatca | Synonymous | 98 | 2 | 0 | 0.010 | ||
Intron 10 | 1277 + 95 | atagTgtaa | atagAgtaa | 97 | 3 | 0 | 0.015 | |||
Exon 11 | 1322 | agcaGtgtt | agcaAtgtt | Ser441Asn | 99 | 1 | 0 | 0.005 | ||
Intron 11 | 1367 + 20 | ttctAggaa | ttctGggaa | 71 | 25 | 4 | 0.165 | |||
Exon 12 | 1465 | tataTttac | tataCttac | Phe489Leu | 99 | 1 | 0 | 0.005 | ||
Intron 12 | 1492 + 49 | ctatGggtg | ctatCggtg | 44 | 45 | 11 | 0.335 | |||
Exon 13 | 1515 | atgcCttct | atgc-ttct | Phe506Ser | 99 | 1 | 0 | 0.005 | ||
Phe507Leu | ||||||||||
Val508Leu | ||||||||||
Met509stop | ||||||||||
Intron 13 | 1648-42 | tgaaAttac | tgaaTttac | 99 | 1 | 0 | 0.005 | |||
1648-21 | gactCttag | gactTttag | 71 | 25 | 4 | 0.165 | ||||
Intron 14 | 1738-46 | tcttAaaat | tcttGaaat | 24 | 52 | 24 | 0.500 | |||
3′-UTR | 2332 | cttcAgtct | cttcTAgtct | 86 | 14 | 0 | 0.070 | |||
2364 | tgccAttat | tgccCttat | 99 | 1 | 0 | 0.005 | ||||
| 2512 | agaaCttac | agaaTttac |
| 99 | 1 | 0 | 0.005 |