Table 1 Summary of current reported KIF1A variants.
From: KIF1A-associated neurological disorders: therapeutic opportunities and challenges
CDS | AAchange | Consequence | Inheritance | Zygosity | Recorded diagnosis | GOF or LOF | Domain |
|---|---|---|---|---|---|---|---|
c.22 G > A | p.(Val8Met) | Missense variant | Familial | Heterozygous | HSP | GOF | MD |
c.31 C > T | p.(Arg11Trp) | Missense variant | de novo | Heterozygous | Mild KAND, HSP | MD | |
c.32 G > A | p.(Arg11Gln) | Missense variant | de novo | Heterozygous | Mild KAND | LOF | MD |
c.37 C > T | p.(Arg13Cys) | Missense variant | de novo | Heterozygous | Moderate KAND | MD | |
c.38 G > A | p.(Arg13His) | Missense variant | de novo | Heterozygous | Mild KAND, NESCAV | MD | |
c.52 C > T | p.(Arg18Trp) | Missense variant | de novo | Heterozygous | NR | MD | |
c.80 T > C | p.(Ile27Thr) | Missense variant | Familial | Heterozygous | HSP | MD | |
c.89 T > C | p.(Met30Thr) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.110 T > C | p.(Ile37Thr) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.160 T > G | p.(Tyr54Asp) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.167 A > G | p.(Tyr56Cys) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.173 C > T | p.(Ser58Leu) | Missense variant | de novo | Heterozygous | Mild KAND, NESCAV | LOF | MD |
c.206 C > T | p.(Ser69Leu) | Missense variant | Familial | Heterozygous | HSP | MD | |
c.218 T > G | p.(Val73Gly) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.221 A > G | p.(Tyr74Cys) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.232 G > A | p.(Gly78Ser) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.254 C > A | p.(Ala85Asp) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.265 T > G | p.(Tyr89Asp) | Missense variant | de novo | Heterozygous | Mild KAND | LOF | MD |
c.274 T > C | p.(Cys92Arg) | Missense variant | de novo | Heterozygous | RTT | LOF | MD |
c.275_276insAA | p.(Cys92*) | Frameshift variant | de novo | Heterozygous | RTT | MD | |
c.296 C > T | p.(Thr99Met) | Missense variant | de novo | Heterozygous | Severe KAND, PEHO, NESCAV | LOF | MD |
c.304 G > A | p.(Gly102Ser) | Missense variant | de novo | Heterozygous | Moderate KAND, HSP | LOF | MD |
c.305 G > A | p.(Gly102Asp) | Missense variant | de novo | Heterozygous | NESCAV | LOF | MD |
c.308 A > C | p.(Lys103Thr) | Missense variant | de novo | Heterozygous | Moderate KAND | MD | |
c.308 A > G | p.(Lys103Arg) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.317 C > A | p.(Thr106Asn) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.326 G > T | p.(Gly109Val) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.350 G > T | p.(Gly117Val) | Missense variant | de novo | Heterozygous | Mild KAND | LOF | MD |
c.430 G > T | p.(Val144Phe) | Missense variant, splice region variant | de novo | Heterozygous | NESCAV | MD | |
c.442 G > A | p.(Glu148Lys) | Missense variant | de novo | Heterozygous | Severe KAND, HSP | MD | |
c.444 G > T | p.(Glu148Asp) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.443 A > G | p.(Glu148Gly) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.452 G > A | p.(Cys151Tyr) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.463 C > T | p.(Arg155Cys) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.467 A > T | p.(Asp156Val) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.470 T > A | p.(Leu157His) | Missense variant | de novo | Heterozygous | Severe KAND | MD | |
c.499 C > T | p.(Arg167Cys) | Missense variant | de novo | Heterozygous | HSP, NESCAV | MD | |
c.500 G > A | p.(Arg167His) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.506 G > C | p.(Arg169Thr) | Missense variant | de novo | Heterozygous | NESCAV | LOF | MD |
c.512 A > C | p.(His171Pro) | Missense variant | de novo | Heterozygous | Moderate KAND | MD | |
c.518 T > C | p.(LeuL173Pro) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.532 G > A | p.(Val178Met) | Missense variant | de novo | Heterozygous | ALS | MD | |
c.536 A > G | p.(Glu179Gly) | Missense variant | de novo | Compound het | Severe KAND | MD | |
c.556 G > T | p.(Val186Phe) | Missense variant | de novo | Heterozygous | Severe KAND | MD | |
c.574 A > G | p.(Ile192Val) | Missense variant | de novo | Heterozygous | ALS | MD | |
c.595 G > A | p.(Gly199Arg) | Missense variant | de novo | Heterozygous | Mild KAND, HSP | LOF | MD |
C.596 G > A | p.(Gly199Glu) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.604 G > C | p.(Ala202Pro) | Missense variant | de novo | Heterozygous | Mild KAND, NESCAV | LOF | MD |
c.609 G > T | p.(Arg203Ser) | Missense variant, splice region variant | de novo | Heterozygous | Moderate KAND, NESCAV | LOF | MD |
c.617 C > T | p.(Ala206Val) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.629 T > C | p.(Met210Thr) | Missense variant | Familial | Heterozygous | Mild KAND | MD | |
c.630 G > A | p.(Met210Ile) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.631 A > C | p.(Asn211His) | Missense variant | de novo | Heterozygous | Moderate KAND | MD | |
c.641 G > A | p.(Ser214Asn) | Missense variant | de novo | Heterozygous | Severe KAND | MD | |
c.643 A > C | p.(Ser215Arg) | Missense variant | de novo | Heterozygous | Severe KAND, NESCAV | LOF | MD |
c.646 C > T | p.(Arg216Cys) | Missense variant | de novo | Heterozygous | Moderate KAND, NESCAV | LOF | MD |
c.647 G > C | p.(Arg216Pro) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.647 G > A | p.(Arg216His) | Missense variant | de novo | Heterozygous | Moderate KAND, HSP, NESCAV | LOF | MD |
c.650 C > T | p.(Ser217Phe) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.650 C > A | p.(Ser217Tyr) | Missense variant | de novo | Heterozygous | Moderate KAND | LOF | MD |
c.664 A > C | p.(Asn222His) | Missense variant | de novo | Heterozygous | Autism | MD | |
c.685 C > T | p.(Arg229Cys) | Missense variant | de novo | Compound het | Moderate KAND | MD | |
c.715 G > A | p.(Glu239Lys) | Missense variant | de novo | Heterozygous | CMT | MD | |
c.726 C > G | p.(Ser242Arg) | Missense variant | Familial | Homozygous | HSP | MD | |
c.739 G > A | p.(Val247Met) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.743 A > G | p.(Asp248Gly) | Missense variant | de novo | Heterozygous | Mild KAND | LOF | MD |
c.744 C > A | p.(Asp248Glu) | Missense variant | de novo | Heterozygous | RTT | LOF | MD |
c.746 T > A | p.(Leu249Gln) | Missense variant | de novo | Heterozygous | NESCAV | LOF | MD |
c.746 T > C | p.(Leu249Pro) | Missense variant | de novo | Heterozygous | Autism | MD | |
c.745 C > G | p.(Leu249Val) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.751 G > A | p.(Gly251Arg) | Missense variant | de novo | Heterozygous | Severe KAND | LOF | MD |
c.756 C > G | p.(Ser252Arg) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.757 G > A | p.(Glu253Lys) | Missense variant | Both | Heterozygous | Severe KAND, NESCAV, PEHO | LOF | MD |
c.760 C > T | p.(Arg254Trp) | Missense variant | de novo | Heterozygous | Severe KAND, NESCAV, HSP | LOF | MD |
c.761 G > A | p.(Arg254Gln) | Missense variant | de novo | Heterozygous | Mild KAND, HSP, NESCAV | LOF | MD |
c.761 G > C | p.(Arg254Pro) | Missense variant | de novo | Heterozygous | Mild KAND | LOF | MD |
c.764 C > T* | p.(Ala255Val) | Missense variant | Familial | Homozygous | HSP | GOF | MD |
c.764 C > A | p.(Ala255Asp) | Missense variant | Familial | Heterozygous | HSP | MD | |
c.773 C > T | p.(Thr258Met) | Missense variant | Both | Heterozygous | Mild KAND, HSP | LOF | MD |
c.799 G > C | p.(Glu267Gln) | Missense variant, splice region variant | de novo | Heterozygous | Moderate KAND, NESCAV | MD | |
c.805 G > C | p.(Ala269Pro) | Missense variant | de novo | Heterozygous | HSP, NESCAV | MD | |
c.814 A > G | p.(Asn272Asp) | Missense variant | de novo | Heterozygous | NESCAV | MD | |
c.815 A > G | p.(Asn272Ser) | Missense variant | de novo | Heterozygous | Moderate KAND, HSP, NESCAV | MD | |
c.821 C > T | p.(Ser274Leu) | Missense variant | Both | Heterozygous | Severe KAND, HSP | MD | |
c.824 T > C | p.(Leu275Pro) | Missense variant | de novo | Heterozygous | Moderate KAND | MD | |
c.833 T > C | p.(Leu278Pro) | Missense variant | de novo | Heterozygous | Mild KAND, HSP | LOF | MD |
c.835 G > C | p.(Gly279Arg) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.836 G > A | p.(Gly279Asp) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.839 A > G | p.(Lys280Arg) | Missense variant | de novo | Heterozygous | Moderate KAND | MD | |
c.914 C > T | p.(Pro305Leu) | Missense variant | de novo | Heterozygous | Severe KAND, HSP, RTT | LOF | MD |
c.917 A > G | p.(Tyr306Cys) | Missense variant | de novo | Heterozygous | Severe KAND | MD | |
c.919 C > G | p.(Arg307Gly) | Missense variant | de novo | Heterozygous | Moderate KAND, NESCAV | MD | |
c.920 G > A | p.(Arg307Gln) | Missense variant | de novo | Heterozygous | Severe KAND, HSP, NESCAV | LOF | MD |
c.920 G > C | p.(Arg307Pro) | Missense variant | de novo | Heterozygous | Moderate KAND | LOF | MD |
c.939 G > T | p.(Trp313Cys) | Missense variant | Familial | Heterozygous | HSP | MD | |
c.941 T > C | p.(Leu314Pro) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.946 C > T | p.(Arg316Trp) | Missense variant | Both | Heterozygous | Severe KAND, HSP, NESCAV | LOF | MD |
c.947 G > A | p.(Arg316Gln) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
c.962 G > A | p.(Gly321Asp) | Missense variant | Familial | Heterozygous | HSP | MD | |
c.967 T > C | p.(Ser323Pro) | Missense variant | de novo | Heterozygous | Mild KAND | MD | |
NR | p.(Thr341Pro) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.1031 C > T | p.(Thr344Met) | Missense variant | de novo | Heterozygous | Moderate KAND | LOF | MD |
c.1048 C > G | p.(Arg350Gly) | Missense variant | de novo | Homozygous | HSP | GOF | MD |
c.1048 C > T | p.(Arg350Trp) | Missense variant | de novo | Heterozygous | HSP | MD | |
c.1108 C > T | p.(Arg370Cys) | Missense variant | de novo | Heterozygous | ALS | NC | |
c.1139 G > C | p.(Arg380Pro) | Missense variant | Familial | Heterozygous | HSP | NC | |
c.1190 C > A | p.(Ala397Asp) | Missense variant | Familial | Heterozygous | NESCAV | GOF | - |
c.1214dup | p.(Asn405Lysfs*40) | Frameshift variant | de novo | Compound het | HSP | - | |
c.1217 C > A | p.(Ala406Asp) | Missense variant | de novo | Heterozygous | Moderate KAND | - | |
c.1271 C > T | p.(Pro424Leu) | Missense variant | de novo | Heterozygous | ALS | - | |
c.1406 C > G | p.(Ala469Gly) | Missense variant | de novo | Heterozygous | HSP | CC1 | |
c.1451 C > A | p.(Ala484Asp) | Missense variant | de novo | Heterozygous | Moderate KAND | - | |
c.1463 A > T | p.(Asp488Val) | Missense variant | de novo | Compound het | Severe KAND | - | |
c.1856C > G | p.(Ala619Gly) | Missense variant | de novo | Heterozygous | ALS | - | |
c.1894C>T | p.(Gln632*) | Stop gained | de novo | Heterozygous | HSP | CC2 | |
c.2131 C > T | p.(Arg711Trp) | Missense variant | de novo | Heterozygous | ALS | LBD | |
c.2423 A > G | p.(Tyr808Cys) | Missense variant | de novo | Heterozygous | ALS | GOF | LBD |
c.2554 C > T | p.(Arg842Cys) | Missense variant | de novo | Heterozygous | HSP | LBD | |
c.2658del | p.(Ser887Profs*64) | Missense variant | Familial | Homozygous | HSAN II | LBD | |
c.2751_2753delGGA | p.(Glu917del) | Frameshift variant | Familial | Homozygous | Mild KAND | LBD | |
c.2753_2754insGGA | p.(Asp918delinsGluAsp) | Frameshift variant | Familial | Heterozygous | ALS | LBD | |
c.2840delT | p.(Leu947Argfs*4) | Frameshift variant | de novo | Homozygous | HSAN II | LBD | |
c.2880 C > A | p.(Asn960Lys) | Missense variant | de novo | Heterozygous | HSP | LBD | |
c.2909 G > A | p.(Arg970His) | Missense variant | de novo | Compound het | HSP | LBD | |
c.2935 G > A | p.(Glu979Lys) | Missense variant | de novo | Heterozygous | ALS | LBD | |
c.3247 G > A | p.(Ala1083Thr) | Missense variant | Familial | Heterozygous | ALS | LBD | |
c.3380 T > C | p.(Ile1127Thr) | Missense variant | Familial | Heterozygous | HSP | - | |
c.3533 T > C | p.(Phe1178Ser) | Missense variant | de novo | Heterozygous | ALS | - | |
c.3601 C > T | p.(Arg1201Cys) | Missense variant | de novo | Heterozygous | ALS | GOF | - |
c.3617 G > A | p.(Arg1206Gln) | Missense variant | de novo | Heterozygous | ALS | - | |
c.3680 C > T | p.(Pro1227Leu) | Missense variant | de novo | Heterozygous | ALS | - | |
c.3719dupA | p.(Asn1240Lysfs*2) | Frameshift variant | de novo | Homozygous | HSP | - | |
c.3763 G > A | p.(Val1255Met) | Missense variant | de novo | Heterozygous | ALS | - | |
c.3871 C > T | p.(Arg1291Cys) | Missense variant | Familial | Compound het | HSAN II | - | |
c.3887 G > A | p.(Arg1296His) | Missense variant | Familial | Heterozygous | HSP | - | |
c.3898 G > A | p.(Val1300Met) | Missense variant | Familial | Compound het | HSAN II | - | |
c.4096_4103dup | p.(Asp1369fs) | Frameshift variant | de novo | Heterozygous | HSP | - | |
c.4278 C > G | p.(Tyr1426*) | Frameshift variant | de novo | Heterozygous | HSP | - | |
c.4370 G > A | p.(Arg1457Gln) | Missense variant | de novo | Heterozygous | ALS | Conflicting | - |
c.4594delC | p.(Pro1532Argfs*67) | Frameshift variant | de novo | Heterozygous | HSP | - | |
c.4682 C > T | p.(Thr1561Met) | Missense variant | de novo | Heterozygous | ALS | - | |
c.4771 C > T | p.(Arg1591Trp) | Missense variant | de novo | Compound het | Moderate KAND | - | |
c.4778 C > T | p.(Pro1593Leu) | Missense variant | de novo | Heterozygous | ALS | - | |
c.4927 G > A | p.(Asp1643Asn) | Missense variant | de novo | Heterozygous | ALS | - | |
c.4955 G > A | p.(Arg1652Gln) | Missense variant | de novo | Heterozygous | ALS | - | |
c.5046 C > A | p.(Tyr1682fs) | Frameshift variant | de novo | Heterozygous | HSP | PH | |
c.5063 C > T | p.(Pro1688Leu) | Missense variant | de novo | Heterozygous | ALS | Conflicting | PH |
c.5131 G > A | p.(Asp1711Asn) | Missense variant | de novo | Heterozygous | ALS | PH | |
c.5150 G > T | p.(Arg1717Leu) | Missense variant | de novo | Heterozygous | ALS | PH | |
c.5231 C > T | p.(Ala1744Val) | Missense variant | de novo | Heterozygous | ALS | GOF | PH |
c.5271dupC | p.(Ser1758Glnfs*7) | Frameshift variant | de novo | Compound het | HSAN II | PH | |
