Table 2.
Inheritance patterns of variants with dominant or extraordinary functional features
| Variant | Functional | Clinical/Genetic | Sum | Location | ||||
|---|---|---|---|---|---|---|---|---|
| Dominant | Sporadic | Recessive | Uncertain | Unknown | ||||
| p.Met128Ile | Dominant | 2 | – | – | – | – | 2 | TM1 |
| p.Cys179Tyr* | Dominant | 1 | – | – | – | – | 1 | TM1 |
| p.Ser183Pro | Dominant | 1 | – | – | – | – | 1 | TM1 |
| p.Gly190Ser | Dominant | – | – | 3 | – | – | 3 | TM1 |
| p.Leu198Pro | Dominant | – | – | – | – | 1 | 1 | TM1 |
| p.Gly200Glu* | Dominant | – | – | 1 | – | – | 1 | TM1 |
| p.Ala218Val | Dominant | 1 | – | – | – | – | 1 | TM1 |
| p.Gly230Glu | Dominant | 29 | 5 | – | 1 | 5 | 40 | TM1 |
| p.Pro234Thr* | Dominant | – | – | 1 | – | – | 1 | TM1 |
| p.Pro234Leu* | Dominant | – | – | – | 1 | – | 1 | TM1 |
| p.Thr268Met | Dominant | 1 | – | – | – | 2 | 3 | TM1 |
| p.Cys271Arg | Dominant | 1 | – | – | – | – | 1 | TM1 |
| p.Gly276Asp | Dominant | 2 | – | – | – | – | 2 | TM1 |
| p.Gly285Glu | Dominant | 5 | 3 | 9 | 4 | 5 | 26 | TM1 |
| p.Ser289Gly* | Dominant | 1 | – | – | – | – | 1 | TM1 |
| p.Ser289Asn | Dominant | 1 | 1 | – | – | – | 2 | TM1 |
| p.Ser289Ile* | Dominant | – | – | 1 | – | – | 1 | TM1 |
| p.Phe297Ser | Dominant | 7 | – | – | – | – | 7 | TM1 |
| p.Val299Leu | Dominant | – | – | 2 | – | – | 2 | TM1 |
| p.Trp303Arg | Dominant | 12 | 2 | – | – | 2 | 16 | TM1 |
| p.Phe306Leu | Dominant | 2 | 1 | – | – | 2 | 5 | TM1 |
| p.Phe307Ser | Dominant | 1 | 2 | 4 | – | 3 | 10 | TM1 |
| p.Ala313Thr | Dominant | 9 | 1 | 1 | – | 1 | 12 | TM1 |
| p.Ala313Val | Dominant | 2 | – | – | 2 | 1 | 5 | TM1 |
| p.Val321Leu | Dominant | – | 1 | – | – | – | 1 | TM1 |
| p.Thr328Ile | Dominant | 1 | – | – | – | 4 | 5 | TM1 |
| p.Pro480His | Dominant | – | – | – | 2 | – | 2 | TM2 |
| p.Pro480Ser | Dominant | 1 | – | – | – | 1 | 2 | TM2 |
| p.Gly523Asp | Dominant | – | 1 | – | – | – | 1 | TM2 |
| p.Val536Ile | Dominant | – | – | – | – | 1 | 1 | TM2 |
| p.Gly551Asp | Dominant | – | – | – | – | 1 | 1 | TM2 |
| Total | Dominant | 80 | 17 | 22 | 10 | 29 | 158 | |
| p.Leu332Arg* | Other | – | 1 | – | – | – | 1 | TM1 |
| p.Pro342Leu* | Other | – | 1 | – | – | – | 1 | TM1 |
| p.Arg421Cys | Other | – | – | 1 | – | – | 1 | TM2 |
| p.Met485Lys* | Other | – | – | 1 | – | – | 1 | TM2 |
| Total | All | 81 | 21 | 74 | 33 | 54 | 263 | |
Asterisks following variant name indicate variants not reported in the literature previously. Functional = classification according to functional feature; Clinical/Genetic = number of pedigrees with distinct inheritance patterns of clinical symptoms. Location = if the variant is found in intracellular domain (IC: residues 1–110, 586–988), first (TM1: residues 111–344) or second (TM2: residues 345–585) of the transmembrane repeats. ‘Other’ indicates that the functional features could not be classified as wild-type-like, dominant or recessive. Data in row ‘All’ includes data from Tables 1 and 2.