Table 1 of Jelodari-Mamaghani, Mol Vis 2013; 19:333-347.


Table 1. Novel sequence variations in LTBP2.

Mutation Het/Homo Proteinlocation Changein chargeof aa Change insize of Rgroup of aa PolyPhenprediction/HumDiv score Conservation No. controlschecked/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