Table 1 KIF1A variants in autosomal dominant HSP
From: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Family | Variant (heterozygous) DNA; protein | Domain | CADD (PHRED) | Freq in ExAC/gnomAD | Evolutionary conservation | LOVD ID |
|---|---|---|---|---|---|---|
P1 | c.89T>C; p.(Met30Thr) | Motor | 26.4 | 0/0 | M, F, DM | 00225586 |
P2 | c.167A>G; p.(Tyr56Cys) | Motor | 28.6 | 0/0 | M, F, DM, CE | 00225587 |
P3 | c.206C>T; p.(Ser69Leu) | Motor | 16.3 | 0/0 | M | 00246956 |
P4 | c.221A>G; p.(Tyr74Cys)a | Motor | 25.7 | 0/0 | M, F, DM, CE | 00225589 |
P5 | c.232G>A; p.(Gly78Ser) | Motor | 34 | 0/0 | M, F, DM, CE | 00225590 |
P6 | c.317C>A; p.(Thr106Asn) | Motor | 26.3 | 0/0 | M, F, DM, CE | 00225591 |
P7 | c.500G>A; p.(Arg167His) | Motor | 34 | 0/0 | M, F, DM, CE | 00225592 |
P8 | c.518T>C; p.(Leu173Pro) | Motor | 27 | 0/0 | M, F, DM, CE | 00225593 |
P9/10 | c.756C>G; p.(Ser252Arg) | Motor | 25.1 | 0/0 | M, F, DM, CE | 00225594 00246690 |
P11/12/13 | c.773C>T; p.(Thr258Met) | Motor | 28.5 | 0/0 | M, F, DM, CE | 00225610 00246691 00246692 |
P14 | c.1048C>T; p.(Arg350Trp) | Motor | 12.95 | 0/0 | M, F, DM, CE | 00225611 |
P15 | c.1379C>G; p.(Ala460Gly) | Coiled coil | 25.3 | 0/0 | M, F | 00225612 |
P16 | c.1867C>T; p.(Gln623*) | ni | 38 | 0/0 | ni | 00225613 |
P17/18 | c.2527C>T; p.(Arg843Cys) | – | 35 | 1/244238 | M, F | 00225614 00246693 |
P19 | c.2577C>A; p.(Asn859Lys) | – | 28.9 | 0/0 | M, F, DM, CE | 00225615 |
P20 | c.3975C>G; p.(Tyr1325*) | ni | 29.1 | 0/0 | ni | 00225616 |
P21 | c.4096_4103dup; (p.(Asp1369fs) | ni | 11.05 | 0/0 | ni | 00343920 |
P22 | c.4292del; p.(Pro1431fs) | ni | 22.5 | 0/0 | M, F | 00225617 |
P23 | c.4740dup; p.(Tyr1581fs) | ni | 35 | 0/0 | ni | 00225618 |
P24 | Chr2[GRCh37]:g.(238475818_ 238482964)_(243037178_qter)del | ni | ni | ni | ni | 00245206 |
