Table 1.
NPC1 and NPC2 genotypes in ‘NP-C positive’ and ‘NP-C uncertain’ patients
| Patient | NPC gene | Mutation(s) | Classification | Amino acid changes |
|---|---|---|---|---|
| NP-C positive patients | ||||
| 1 |
NPC1
NPC1 |
c.2621A>T c.2872C>T |
Known NP-C mutation Known NP-C mutation |
p.Asp874Val p.Arg958* |
| 2 |
NPC1
NPC1 |
c.3019C>G c.3019C>G |
Known NP-C mutation Known NP-C mutation |
p.Pro1007Ala p.Pro1007Ala |
| 3 |
NPC1
NPC1 |
c.2861C>T c.3002T>C |
Known NP-C mutation Unclassified variant |
p.Ser954Leu p.Met1001Thr |
| NP-C uncertain patients | ||||
| 1 | NPC1 | c.563A>G | Unclassified variant | p.Asn188Ser |
| 2 | NPC1 | c.2974G>C | Known NP-C mutation | p.Gly992Arg |
| 3 | NPC1 | c.1712A>G | Known NP-C mutation | p.Tyr571Cys |
| 4 | NPC2 | c.441+1G>A | Unclassified variant | NA |
| 5 | NPC1 | c.1554–1010C>T | Unclassified variant | NA |
| 6 |
NPC1
NPC1 |
c.1990G>A c.3598A>G |
Known NP-C mutation Unclassified variant |
p.Val664Met p.Ser1200Gly |
| 7 | NPC1 | c.2829C>T | Unclassified variant | p.Ile943Ile |
| 8 | NPC1 | c.3755_3837del | Unclassified variant | p.Gly1252Alafs*56 |
| 9 | NPC2 | c.441+1G>A | Unclassified variant | NA |
| 10 | NPC2 | c.441+1G>A | Unclassified variant | NA |
| 11 | NPC1 | c.2861C>T | Known NP-C mutation | p.Ser954Leu |
| 12 | NPC1 | c.2335T>C | Unclassified variant | p.Phe779Leu |
Amino acid changes denoted by ‘NA’ (not applicable) indicate cases in whom splicing defects are assumed, which does not allow prediction of the amino acid change.