Table 1. .
Mutations in TMEM76 Identified in Patients from 30 Families with MPS IIIC
| Mutation Group and Mutationa |
Predicted Effect on Protein |
No. of Alleles | Location in TMEM76 |
| Nonsense mutations: | |||
| c.1031G→A | p.W344X | 2 | Exon 10 |
| c.1046T→G | p.L349X | 1 | Exon 10 |
| c.1234C→T | p.R412X | 8 | Exon 12 |
| c.1600C→T | p.R534X | 1 | Exon 15 |
| Missense mutations: | |||
| c.311G→T | p.C104F | 1 | Exon 2 |
| c.932C→T | p.P311L | 3 | Exon 9 |
| c.1114C→T | p.R372C | 3 | Exon 11 |
| c.1115G→A | p.R372H | 1 | Exon 11 |
| c.1354G→A | p.G452S | 2 | Exon 13 |
| c.1495G→A | p.E499K | 3 | Exon 14 |
| c.1529T→A | p.M510K | 1 | Exon 14 |
| c.1706C→T | p.S569L | 4 | Exon 17 |
| c.1769A→T | p.D590V | 1 | Exon 17 |
| c.1796C→T | p.P599L | 1 | Exon 17 |
| Frameshift mutations: | |||
| c.1118_1133del | p.I373SfsX3 | 1 | Exon 11 |
| c.1420_1456dup | p.V488GfsX22 | 1 | Exon 13 |
| c.1834delG | p.V612SfsX16 | 1 | Exon 18 |
| Splice-site mutations: | |||
| c.202+1G→A | p.L69EfsX32b | 1 | Intron 1 |
| c.577+1G→A | p.P193HfsX20b | 1 | Intron 4 |
| c.935+5G→A | p.F313X | 1 | Intron 9 |
| c.1334+1G→A | p.G446Xb | 1 | Intron 12 |
| c.1810+1G→A | p.S567NfsX14 | 2 | Intron 17 |
| Complex mutations: | |||
| c.[318+1G→A; 794C→A] | p.[D68VfsX19; P265Q] | 6 | Intron 2; exon 7 |
| c.[577+1G→A; 1650A→C] | p.[P193HfsX20; K551Q] | 2 | Intron 4; exon 16 |
| c.[1293G→T; 1927G→A] | p.[W431C; A643T] | 2 | Exon 12; exon 18 |
a
Mutation names were assigned according to the guidelines of the Human Genome Variation Society and on the basis of the cDNA sequence from GenBank accession number NT_007995.14, except that the first exon includes 84 nt 5′ of the stated ATG initiation codon. Thus, +1 corresponds to the A of the ATG at nt 13315945 (instead of nt 13316029).
b
The mutations were named under the assumption that no exon skipping takes place; cDNA sequencing was not done.