Table 2 Novel variants in known IPN genes that are considered to be possibly pathogenic variants
From: Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
Gene | Ref. sequence | Variations at DNA-level (relative to coding DNA sequence) | Variation at protein level (deduced) | Pathogenicity predictions | Locus conservation | ExAC (0.3.1) allele frequency |
|---|---|---|---|---|---|---|
AARS | (NM_001605.2) | c.503 C>T | p.Pro168Leu | SIFT:D MT: DC | N:highly AA: highly | All: T = 0.0017 % |
BICD2 | (NM_001003800.1) | c.1540G>A | p.Gly514Ser | SIFT:D MT: DC | N:M AA:highly | All: A = 0.019 % |
DCTN1 | (NM_004082.4) | c.487G>A | p.Ala163Thr | SIFT:T MT: DC | N:W AA:Highly | All: A = 0.0029 % |
DNM2 | (NM_001005360) | c.890G>T | p.Arg297Leu | SIFT:D MT:DC | N:highly AA:highly | All: T = 0.0016 % |
DNM2 | (NM_001005360) | c.796C>T | p.Arg266Trp | SIFT:D MT:DC | N:W AA:highly | All: T = 0.0017 % |
GNB4 | (NM_021629.3) | c.125G>A | p.Arg42Gln | SIFT:D MT:DC | N:highly AA:highly | All: A = 0.0033 % |
ITPR3 | (NM_002224.3) | c.3190A>G | p.Met1064Val | SIFT:D MT:DC | N:highly AA:highly | No |
LRSAM1 | (NM_138361.5) | c.1298C>T | p.Ser433Leu | SIFT:T MT:DC | N:W AA:M | No |
PDK3 | (NM_001142386.2) | c.218A>G | p.Asn73Ser | SIFT:T MT:DC | N:W AA:M | No |
SETX | (NM_015046.5) | c.5825T>C | p.Ile1942Thr | SIFT:D MT:DC | N:M AA:highly | All: C = 0.00084 % |
SPTLC2 | (NM_004863.3) | c.1313del | p.Cys438Leu fs*5 | frameshift | No |