Pt (Country) | Phenotype | Nucleotide exchange* | Amino acid exchange | Massively parallel DNA sequencing | Bioinformatics analyses | Reference | Analysed relatives | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Mutated allele frequency | Coverage | SIFT | PolyPhen-2 | Population genetics† | Kinship | Results | |||||
1 (Spain) | MWS | c.908 A>C | p.D303A | 31.3%‡ | 622ׇ | Damaging | Probably damaging | Absent | Present Study | n.d. | n.d. |
2 (Japan) | MWS | c.1000 A>G | p.I334V | 34.9%‡ | 1060ׇ | Damaging | Benign | Absent | 12 | Father | Negative§ |
Mother | Negative§ | ||||||||||
3 (Japan) | MWS | c.1064 A>C | p.K355T | 20.2%‡ | 100ׇ | Tolerated | Probably damaging | Absent | Present Study | n.d. | n.d. |
4¶ (Spain) | MWS | c.[1231 C>T; 1233 G>T] | p.L411F | 14.4%‡ | 590ׇ | Tolerated | Possibly damaging | Absent | Present Study | Mother | Negative§ |
4** (Spain) | MWS | c.[1231 C>T; 1233 G>T] | p.L411F | 15.6%‡ | 870ׇ | Tolerated | Possibly damaging | Absent | Present Study | Mother | Negative§ |
5 (Spain) | MWS | c.1569 C>A | p.F523L | 8.7%†† | 569׆† | Tolerated | Possibly damaging | Absent | 3 | Daughter | Negative§ |
6 (Japan) | MWS | c.1699 G>A | p.E567K | 5.6%‡ | 1211ׇ | Tolerated | Benign | Absent | 11 | n.d. | n.d. |
7 (Japan) | MWS | c.1699 G>A | p.E567K | 5.5%‡ | 724ׇ | Tolerated | Benign | Absent | 11 | n.d. | n.d. |
*NCBI Reference Sequence NM_001243133.1.
†Data of population genetics obtained from NCBI dbSNP Build 137.
‡Mean of two independent experiments.
§Analyses performed by Sanger sequencing.
¶Blood sample collected in 2002.
**Blood sample collected in 2009.
††Mean of four independent experiments.
MWS, Muckle-Wells syndrome; n.d., not done; Pt, patient; SIFT, Sorting Intolerant from Tolerant.