Table 1 of Pandaranayaka, Mol Vis 2010; 16:2891-2902.


Table 1. Possible alternate splice site causing SNP.



SNP
number

Genomic
location
(bp)
Location of
new site
in MYOC
genome
Location of
new site
in Mutated
MYOC genome

Splice
site
type
Length of
altered
protein
product
Known
association
with
disease
SNP 67 (A>G) 4453 (Intron) 4449 4449 A 215 No
SNP 12 (G>A) 14072 (Intron) 14075 14075 A 258 No
SNP 88 (C/-) 1293 (Intron) 1299 1298 D 214 No
SNP 22 (-/TTTT) 12975 (Intron) 12989 12993 A 225 No
SNP 68 (T/-) 4445 (Intron) 4450 4449 A 275 No
SNP 121 (T>C) 16233 (Exon-3) 16206 16206 A 337 POAG