Allele frequency of ABCB6 polymorphisms by porphyria subtype comparing severity
| . | AIP . | HCP . | VP . | EPP . | EPP* . | XLP . | . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | S† . | M‡ . | S . | M . | S . | M . | S . | M . | . | . | Total . | MAF§ . |
| Patients | 67 | 155 | 15 | 34 | 46 | 79 | 85 | 73 | 5 | 3 | 562 | |
| Alleles∥ | 134 | 310 | 30 | 68 | 92 | 158 | 170 | 146 | 10 | 6 | 1124 | |
| R192Q | 2 | 5 | 1 | 3 | 1 | 12 | 0.00342 | |||||
| R192W | 2 | 1 | 1 | 2 | 1 | 2 | 3 | 2 | 14 | 0.00183 | ||
| R247C | 1 | 1 | 2 | 0.00646 | ||||||||
| R276W | 1 | 9 | 1 | 1 | 1 | 2 | 1 | 16 | 0.01895 | |||
| R343Q | 1 | 1 | 2 | 0.01911 | ||||||||
| A492T | 2 | 2 | 1 | 1 | 1 | 1 | 2 | 10 | 0.00716 | |||
| T521S | 2 | 2 | 1 | 1 | 1 | 1 | 2 | 1 | 11 | 0.00385 | ||
| G588S | 2 | 7 | 2 | 1 | 3 | 2 | 1 | 18 | 0.00467 | |||
| A681T | 0 | 0.00027 | ||||||||||
| G729S | 1 | 1 | 0.00005 | |||||||||
| R589R | 1 | 1 | 0 | |||||||||
| Total VUS∥ | 12 | 29 | 3 | 6 | 5 | 9 | 14 | 7 | 1 | 1 | 87 | |
| . | AIP . | HCP . | VP . | EPP . | EPP* . | XLP . | . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | S† . | M‡ . | S . | M . | S . | M . | S . | M . | . | . | Total . | MAF§ . |
| Patients | 67 | 155 | 15 | 34 | 46 | 79 | 85 | 73 | 5 | 3 | 562 | |
| Alleles∥ | 134 | 310 | 30 | 68 | 92 | 158 | 170 | 146 | 10 | 6 | 1124 | |
| R192Q | 2 | 5 | 1 | 3 | 1 | 12 | 0.00342 | |||||
| R192W | 2 | 1 | 1 | 2 | 1 | 2 | 3 | 2 | 14 | 0.00183 | ||
| R247C | 1 | 1 | 2 | 0.00646 | ||||||||
| R276W | 1 | 9 | 1 | 1 | 1 | 2 | 1 | 16 | 0.01895 | |||
| R343Q | 1 | 1 | 2 | 0.01911 | ||||||||
| A492T | 2 | 2 | 1 | 1 | 1 | 1 | 2 | 10 | 0.00716 | |||
| T521S | 2 | 2 | 1 | 1 | 1 | 1 | 2 | 1 | 11 | 0.00385 | ||
| G588S | 2 | 7 | 2 | 1 | 3 | 2 | 1 | 18 | 0.00467 | |||
| A681T | 0 | 0.00027 | ||||||||||
| G729S | 1 | 1 | 0.00005 | |||||||||
| R589R | 1 | 1 | 0 | |||||||||
| Total VUS∥ | 12 | 29 | 3 | 6 | 5 | 9 | 14 | 7 | 1 | 1 | 87 | |
VUS, variant of unknown significance.
Protoporphyrin accumulation without mutation in FECH, ALAS2, CLPX. A681T was not identified in this population.
S, severe phenotype.
M, mild/asymptomatic phenotype.
MAF, minor allele frequency.
All allele variants have been deposited with Single Nucleotide Polymorphism database and accession are listed in supplemental Table 4.