Table 1. SFPTC variants found in individuals.
| Case | Varianta | Inheritance | dbSNP/LOVD | Annotation | SIFT/Polyphen2 | 1000G/ESPb | Species conservation |
|---|---|---|---|---|---|---|---|
| 1 | c.196G>A p.(E66K) | Paternal | rs121917836/0000053109 | Pathogenicc | Tolerated, score 0.18/probably damaging, 0.99 | nd/ndd | Highly conserved |
| 2 | c.218T>C p.(I73T) | Paternal | rs121917834/0000053110 | Pathogenice | Damaging, score 0/possibly damaging, 0.85 | nd/nd | Mostly conserved |
| 3 | c.218T>C p.(I73T) | Paternal | rs121917834/0000053110 | Pathogenic | Damaging, score 0/possibly damaging, 0.85 | nd/nd | Mostly conserved |
| 4 | c.218T>C p.(I73T) | Unknown; sibling died of RDS | rs121917834/0000053110 | Pathogenic | Damaging, score 0/possibly damaging, 0.85 | nd/nd | Mostly conserved |
| 5 | c.218T>C p.(I73T) | Maternal | rs121917834/0000053110 | Pathogenic | Damaging, score 0/possibly damaging, 0.85 | nd/nd | Mostly conserved |
| 6 | c.304G>A p.(V102M) | Sporadic | fsee footnote/0000053108 | nd | Tolerated, score 0.08/probably damaging, 1.00 | nd/nd | Highly conserved |
| 7 | c.463G>C p.(A155P) | Unknown | rs202145169g/0000053106 | nd | Tolerated, score 0.28/Benign, 0.004 | nd/0.0359 EAh | Variable |
| 8 | c.518C>A p.(P173H) | Sporadic; 2 siblings negative | Not reported/0000053104 | nd | Tolerated, score 0.08/possibly damaging, 0.94 | nd/nd | Variable |
a
Column 2: in bold, established or probable disease-causing variants; in light, variants of uncertain significance.
b
1000 Genomes Project phase1, NHBLI Exome sequencing project.
d
nd=no data, not present.
e
OMIM, http://www.ncbi.nlm.nih.gov/pubmed/11991887, http://www.ncbi.nlm.nih.gov/pubmed/15293602, http://www.ncbi.nlm.nih.gov/pubmed/19443464.
f
Willander et al13 (online supplement).
g
Reported in three European Americans in ESP, heterozygous.
h
Minor allele frequency in European Americans in ESP.