Table 1.
ASB10 sequence variants found in patients and control individuals of the two cohorts
| Exon | Nucleotide alteration | db SNP | Amino acid substitution | Protein domain | Cohort I (USA) |
Cohort II (Germany) |
||
|---|---|---|---|---|---|---|---|---|
| Patientsa (n = 195) | Controlsa (n = 85) | Patientsa (n = 977) | Controlsa (n = 376) | |||||
| Non-synonymous | ||||||||
| 1 | c.55C>T | rs104886462 | p.Pro19 Ser | N-terminal | 1 | 0 | 5 | 0 |
| 1 | c.94C>A | p.Arg32Ser | N-terminal | 1 | 0 | 0 | 0 | |
| 1 | c.116G>A | p.Arg39Gln | N-terminal | 1 | 0 | 0 | 0 | |
| 1* | c.143C>G | p.Thr48Ser* | N-terminal* | 0 | 0 | 1 | 0 | |
| 1* | c.194G>A | p.Gly65Glu* | N-terminal* | 1 | 0 | 0 | 0 | |
| 1* | c.199G>A | p.Val67Met* | N-terminal* | 0 | 0 | 1 | 0 | |
| 1* | c.215G>A | p.Arg72 His* | N-terminal* | 0 | 1 | 10 | 0 | |
| 1* | c.263A>T | p.Asp88Val* | N-terminal* | 0 | 0 | 1 | 1 | |
| 1* | c.271G>T | p.Asp91Tyr* | N-terminal* | 0 | 1 | 0 | 0 | |
| 1* | c.281G>A | p.Arg94Gln* | N-terminal* | 0 | 0 | 1 | 0 | |
| 1* | c.291T>A | p.Asp97Glu* | N-terminal* | 0 | 0 | 1 | 0 | |
| 2 | c.470C>T | p.Ala157Val | Ankyrin | 0 | 0 | 0 | 1 | |
| 2 | c.502C>T | p.Arg168Cys | Ankyrin | 0 | 0 | 1 | 0 | |
| 2 | c.519C>A | p.Cys173X | Ankyrin | 0 | 0 | 1 | 0 | |
| 2 | c.520C>T | rs104886472 | p.Arg174Trp | Ankyrin | 2 | 0 | 1 | 1 |
| 3 | c.545C>T | p.Ala182Val | Ankyrin | 0 | 0 | 1 | 0 | |
| 3 | c.574G>C | rs104886474 | p.Val192Leu | Ankyrin | 1 | 0 | 5 | 0 |
| 3 | c.664C>G | rs61735708 | p.Arg222Gly | Ankyrin | 2 | 1 | 10 | 3 |
| 3 | c.770G>A | p.Arg257His | Ankyrin | 0 | 0 | 1 | 0 | |
| 3 | c.839A>T | p.Gln280Leu | Ankyrin | 0 | 0 | 1 | 0 | |
| 3 | c.865C>T | rs104886480 | p.Arg289Cys | Ankyrin | 3 | 0 | 6 | 2 |
| 3 | c.913G>A | p.Ala305Thr | Ankyrin | 0 | 0 | 1 | 0 | |
| 3 | c.941C>T | rs104886481 | p.Thr314Met | Ankyrin | 0 | 1 | 1 | 0 |
| 3 | c.951C>G | p.His317Gln | Ankyrin | 1 | 0 | 0 | 0 | |
| 3 | c.1021C>T | p.His341Tyr | Ankyrin | 0 | 0 | 1 | 0 | |
| 3 | c.1034G>A | p.Arg345His | Ankyrin | 0 | 0 | 2 | 0 | |
| 4 | c.1069C>T | rs62489646 | p.Arg357Cys | ND | 23 | 9 | 23 | 19 |
| 4 | c.1159C>A | rs919533 | p.Pro387Thr | ND | 13 | 4 | 24 | 16 |
| 5 | c.1273A>G | rs104886487 | p.Ser425Gly | SOCS box | 1 | 0 | 0 | 0 |
| 5 | c.1312C>T | rs3800791 | p.Arg438Cys | SOCS box | 0 | 1 | 4 | 0 |
| Synonymous | ||||||||
| 1 | c.204G>A | rs104886469 | p.Pro68Pro | N-terminal | 0 | 0 | 1 | 2 |
| 1* | c.105T>G | p.Ser35Ser* | N-terminal* | 0 | 0 | 1 | 0 | |
| 1* | c.204C>G | p.Gly68Gly* | N-terminal* | 0 | 0 | 1 | 0 | |
| 1* | c.225G>A | p.Ala75Ala* | N-terminal* | 0 | 0 | 1 | 0 | |
| 3 | c.583C>A | p.Arg195Arg | Ankyrin | 0 | 0 | 1 | 0 | |
| 3 | c.669G>A | rs104886475 | p.Gly223Gly | Ankyrin | 0 | 0 | 2 | 0 |
| 3 | c.753C>T | rs61743170 | p.Ala251Ala | Ankyrin | 22 | 9 | 29 | 5 |
| 3 | c.765C>T | rs104886478 | p.Thr255Thr | Ankyrin | 0 | 0 | 1 | 0 |
| 3 | c.825G>C∼ | rs2253592 | p.Ala275Ala | Ankyrin | 88/31 | 39/12 | 460/134 | 215/33 |
| 3 | c.981C>T | rs61734407 | p.Leu327Leu | Ankyrin | 0 | 0 | 5 | 2 |
| 3 | c.1047G>T | p.Gly349Gly | ND | 0 | 0 | 1 | 0 | |
| 5 | c.1227G>A | p.Ser409Ser | SOCS box | 6 | 2 | 20 | 4 | |
ASB10 reference sequence is NM_080871.3 and NP_543147.2 (isoform 3); if marked by *, then it is NM_001142459.1 and NP_001135931.2 (isoform 1). ND, not determined.
aThe number in these columns represent heterozygotes except in the case where there are two numbers, then the first number is the number of heterozygotes and the second number represents the number of individuals homozygous for the minor allele.