Table 1.
KLHL40 Mutations by Family, Individual LOD Scores, Ethnicity, and Population-wide Incidence
| Family | Exon(s) |
Mutation |
LOD Score | Ethnicity | Incidence from EVS (1st; 2nd) | Incidence from 1000 Genomes (1st; 2nd) | |
|---|---|---|---|---|---|---|---|
| Nucleotide Change | Amino Acid Change | ||||||
| Family 31a | 1 | c.[100G>C];[257T>C] | p.[Asp34His];[Leu86Pro] | 0.6 | Vietnamese | ND; ND | ND; ND |
| Family 2 | 1 | c.[134delC];[134delC] | p.[Pro45Argfs∗19];[Pro45Argfs∗19] | NA | Italian | NA | ND |
| Family 3 | 1 | c.[270C>G];[270C>G] | p.[Tyr90∗];[Tyr90∗] | NA | Turkish | ND | ND |
| Family 5 | 1 | c.[581T>A];[581T>A] | p.[Val194Glu];[Val194Glu] | 0.6 | Israeli | ND | ND |
| Family 6a | 1 | c.[602G>T];[602G>T] | p.[Trp201Leu];[Trp201Leu] | 1.454 | Turkish | ND | ND |
| Family 7 | 1 | c.[602G>A];[602G>A] | p.[Trp201∗];[Trp201∗] | NA | Norwegian | ND | ND |
| Family 9 | 1 | c.[790delC];[790delC] | p.[Arg264Alafs∗59];[Arg264Alafs∗59] | 0.25 | Turkish | NA | ND |
| Family 10a | 1 and 4 | c.[932G>T];[1516A>C] | p.[Arg311Leu];[Thr506Pro] | NA | Chinese | ND; ND | ND; ND |
| Family 34 | 2 and 6 | c.[1190C>T];[1762G>A] | p.[Pro397Leu];[Glu588Lys] | NA | Turkish | ND; ND | ND; A = 2 and G = 2,184 |
| Family 12 | 2 and 4 | c.[1270_1272delinsAGATCAAGGT];[1582G>A] | p.[Asp424Argfs∗23];[Glu528Lys] | NA | Japanese | NA; ND | ND; ND |
| Family 13 | 2 and 4 | c.[1281_1294delCTGCCTGGACTCGG];[1582G>A] | p.[Cys428Hisfs∗12];[Glu528Lys] | NA | Korean | NA; ND | ND; ND |
| Family 14 | 3 | c.[1364A>G];[1364A>G] | p.[His455Arg];[His455Arg] | NA | Turkish | ND | ND |
| Family 15 | 3 | c.[1405G>T];[1405G>T] | p.[Gly469Cys];[Gly469Cys] | NA | Japanese | ND | ND |
| Family 16a | 3 and 4 | c.[1405G>T];[1582G>A] | p.[Gly469Cys];[Glu528Lys] | 0.727 | Japanese | ND; ND | ND; ND |
| Family 17a | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | 1.654 | Turkish | ND | ND |
| Family 18a | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | 0.125 | Kurdish | ND | ND |
| Family 19 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | 0.25 | Kurdish | ND | ND |
| Family 20 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 21 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 22 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 23 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 24 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 25 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 26 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 27 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 28 | 4 | c.[1582G>A];[1582G>A] | p.[Glu528Lys];[Glu528Lys] | NA | Japanese | ND | ND |
| Family 29 | 4/5 | c.[1608–1G>A];[1608–1G>A] | NA | NA | Turkish | ND | ND |
| Family 30 | 5 | c.[1612G>C];[1612G>C] | p.[Ala538Pro];[Ala538Pro] | NA | Turkish | ND | ND |
The individual pedigree LOD scores are given where possible. This table also shows the incidence of the mutations reported within the NHLBI EVS and the 1000 Genomes browser. Abbreviations are as follows: NA, not available; and ND, not detected.
a
Families for whom WES was performed.