Table 1 of Jelodari-Mamaghani, Mol Vis 2013; 19:333-347.
Mutation | Het/ Homo | Protein location | Change in charge of aa | Change in size of R group of aa | PolyPhen prediction/ HumDiv score | Conservation | No. controls checked/ presence | Comments | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
POAG | ||||||||||||
p.Pro432Leu | Het | Close to right border (p.428) | − | Small>large | Probably | + + + + | 400/- | Also observed | ||||
of 2nd EFG-like motif | (Ring>linear) | damaging/1 | in PEXG patient | |||||||||
p.Arg495Gln | Het | Not within known motif | + | Large>medium | Probably | + + + | 400/- | Familial data supports | ||||
damaging/0.999 | role in disease | |||||||||||
p.Glu1191Lys | Het | Adjacent to p.Cys1192 | + | Medium>large | Probably | + + + | 400/- | |||||
of 12th EFG-like motif | damaging/0.987 | |||||||||||
p.Gln1417Arg | Homo | Within TB2 motif | + | Medium>large | Benign/0.249§ | + + | 400/- | |||||
p.Val1638Met | Het | Very close to right border | − | Medium>large | Probably | + + | 400/- | |||||
(p.1636) of TB3 motif | damaging/0.998 | |||||||||||
PEX syndrome | ||||||||||||
p.Pro432Leu | Het | Close to right border (p.428) | − | Small>large | Probably | + + + + | 400/- | Also observed | ||||
of 2nd EFG-like motif | (Ring>linear) | damaging/1 | in POAG patient | |||||||||
p.Tyr1792fsX55* | Het | Stop codon within | 400/- | Causative of PCG | ||||||||
cbEFG-like 20 motif | in Hom state | |||||||||||
Other novel variations probably not disease associated | Reason assessed | |||||||||||
not disease associated¤ | ||||||||||||
p.Ser518Ile | Het | Not within known motif | − | Very small>large | Possibly | + | 100/2 | Observed in POAG | Also observed | |||
damaging/0.837 | (2X),PEX, | in controls | ||||||||||
simple EL patients | ||||||||||||
p.Pro1452Pro | Het | Within TB3 motif | − | − | ND | Observed | Creates synonymous | |||||
in POAG patient | codon | |||||||||||
p.Pro1556Pro | Het | Within cbEFG-like 18 motif | − | − | ND | Observed | Creates synonymous | |||||
in POAG patient | codon | |||||||||||
p.Ile667Leu | Het | Not within known motif | − | − | Benign/0.028 | + | 200/- | Observed in | Similar amino acid | |||
PEX patient | in other species | |||||||||||
Intronic | Het | ND | Observed in | No effect on splicing | ||||||||
PEX patient | ||||||||||||
p.Met1567Val | Het | Within cbEFG-like motif 18 | − | Large>medium | Benign/0.000 | + | 200/- | Observed in | Val observed in | |||
PEXG patient | non-primate species |