Table 2
Identified DNA variants in MYH7
| FHC no. | Location of nucleotide change | Amino acid change | Note |
|---|---|---|---|
| Bold fonts are novel DNA variants based on the literature and dbSNP (Build 121, http://www.ncbi.nlm.nih.gov/SNP). The base numbers are based on the reference sequence (GenBank accession X52889). | |||
| *Known MYH7 mutations that have been reported previously10,11; †novel missense mutations were identified in patients with FHC, but absent from 200 normal control chromosomes; ‡this DNA variant was identified in an FHC proband; however, it was also present in 200 normal control chromosomes, with a population frequency of 3%. | |||
| FHC, familial hypertrophic cardiomyopathy; SNP, single nucleotide polymorphism. | |||
| 644 | Exon 8, 6475 C>G | L227V† | Novel missense |
| 274 | Exon 11, 7550 A>G | E328G† | Novel missense |
| 739 | Exon 12, 8266 A>G | K351E† | Novel missense |
| 125* | Exon 13, 8847 C>T | R403W | Reported missense |
| 113* | Exon 13, 8848 G>A | R403Q | Reported missense |
| 400 | Exon 13, 8871G>A | V411I† | Novel missense |
| 1022 | Exon 14, 9070 T>C | M435T† | Novel missense |
| 59* | Exon 14, 9123 C>T | R453C | Reported missense |
| 1227 | Exon 14, 9124 G>A | R453H | Reported missense |
| 676* | Exon 16, 10457 G>A | V606M | Reported missense |
| 484 | Exon 18, 11281 C>T | R663C | Reported missense |
| 1203 | Exon 18, 11281 C>T | R663C | Reported missense |
| 97* | Exon 19, 12147 C>T | R719W | Reported missense |
| 473 | Exon 19, 12148 G>A | R719Q | Reported missense |
| 1232 | Exon 19, 12148 G>A | R719Q | Reported missense |
| 6 | Exon 21, 12765 G>A | R787H | Reported missense |
| 114 | Exon 23, 13968 A>G | E894G† | Novel missense |
| 280 | Exon 23, 13968 A>G | E894G† | Novel missense |
| 743 | Exon 23, 13968 A>G | E894G† | Novel missense |
| 707* | Exon 23, 14009 C>G | L908V | Reported missense |
| 1275 | Exon 23, 14066 G>A | E927K† | Novel missense |
| 968 | Exon 32, 17153 C>G | S1519C‡ | Novel coding SNP |
| 22 | Exon 3, 4582 C>T | T63T | Reported coding SNP |
| 976 | Exon 7, 6311 A>G | A199A | Reported coding SNP |
| 1053 | Exon 8, 6528 T>C | F244F | Reported coding SNP |
| 895 | Exon 11, 7542 C>T | D325D | Reported coding SNP |
| 1101 | Exon 12, 8310 G>A+8343 C>T | K365K+D376D | Reported coding SNPs |
| 8 | Exon 12, 8310 G>A | K365K | Reported coding SNP |
| 11 | Exon 12, 8310 G>A+8277 C>T | K365K+G354G | Reported coding SNPs |
| 1204 | Exon 12, 8277 C>T+8343 C>T | G354G+D376D | Reported coding SNPs |
| 1146 | Exon 12, 8277 C>T | G354G | Reported coding SNP |
| 1199 | Exon 12, 8343 C>T | D376D | Reported coding SNP |
| 739 | Exon 12, 8266 A>G+8310 G>A | K351E+K365K | Novel and reported coding SNPs |
| 256 | Exon 24, 14438 T>C | I989I | Reported coding SNP |
| 579 | Exon 24, 14438 T>C+14507 C>T | I989I+A1022A | Reported and novel coding SNPs |
| 482 | Exon 25, 15807 G>A | A1061A | Novel coding SNP |
| 451 | Exon 27, 17852 G>A | Q1127Q | Novel coding SNP |
| 1199 | Intron 2, 4360 G>T+ Exon 3, 4582 C>T | Non-coding and T63T | Novel non-coding and reported coding SNPs |
| 256 | Intron 2, 4360 G>T | Non-coding | Novel non-coding SNP |
| 674 | Intron 4, 5217 G>A | Non-coding | Novel non-coding SNP |
| 2079 | Intron 19, 12245 A>G | Non-coding | Novel non-coding SNP |
| 973 | Intron 26, 17833insC | Non-coding | Novel non-coding SNP |
| 1199 | Intron 29, 18910 C>T | Non-coding | Novel non-coding SNP |
| 929 | Intron 38, 23485 G>A | Non-coding | Novel non-coding SNP |
