Patient | I | II | Â | III | Â | IV | Â |
---|---|---|---|---|---|---|---|
Sex | F | M | Â | F | Â | F | Â |
Age at definite diagnosis (mo) | 1 | 21 | Â | 6 | Â | 1 | Â |
Age at last visit (mo) | 51 | 36 | Â | 16 | Â | 5 | Â |
Development | normal | delayed | Â | normal | Â | normal | Â |
Mutated gene | PAH | PTS | PTS | PTS | PTS | PAH | PAH |
Genomic position (hg19) | 12:103,248,934 | 11:112,099,388 | 11:112,101,362 | 11:112,103,916 | 11:112,104,166 | 12:103,234,294 | 12:103,249,009 |
dbSNP ID | novel | rs104894275 | rs370340361 | novel | novel | known [18] | rs62514927 [30] |
Zygosity | homozygous | compound het | compound het | compound het | compound het | compound het | compound het |
Reference allele (REF) | – | A | C | A | A | C | T |
Alternate allele (ALT) | T | G | T | C | G | G | C |
No. reads with REF in proband | 0 | 25 | 55 | 21 | 14 | 114 | 55 |
No. reads with ALT in proband | 51 | 31 | 46 | 16 | 5 | 101 | 33 |
Mutation type | frameshift ins | missense | missense | missense | missense | splice acceptor | exonic splicing enhancer |
cDNA change | c.686_687insA | c.155AÂ >Â G | c.200CÂ >Â T | c.274AÂ >Â C | c.326AÂ >Â G | c.1200-1GÂ >Â C | c.611AÂ >Â G |
Protein change | p.Asp229Glufs*54 | p.Asn52Ser | p.Thr67Met | p.Asn92His | p.Asn109Ser | N/A | p.Tyr204Cys |
Prediction SIFT | N/A | damaging | damaging | damaging | damaging | N/A | damaging |
Prediction PROVEAN | N/A | deleterious | deleterious | deleterious | deleterious | N/A | neutral |