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Background
Perchlorate Test
SLC26A4 Mutations
Domains
Listed Mutations
References
Clinical
Testing

Background
EYA1 Mutations
Isoform A
Isoform B
Isoform C
SIX1 Mutations
References
Clinical
Testing

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Everett and colleagues initially
predicted that SLC26A4 spans the apical membrane of the
thyrocyte 11 times, resulting in the carboxy terminus residing
extracellularly (Everett et al 1997). However, in 2000 Royaux
et al noted that the carboxy terminus is intracellular and
therefore an additional alpha helix likely spans the cell
membrane (Royaux et al 2000). We used ten transmembrane
prediction programs which gave results spanning from eight to 13
transmembrane domains. Four programs predicted 12 transmembrane
domains, and
MEMSAT2 (Psipred) results were used, as a recent review
recommended this program as one of the most accurate protein
structure prediction programs to date (Jones et al 1994, Simon
et al 2001). The twelve
transmembrane domains are shown below with the location of
all known mutations (90
mutations have been reported to date in 172 families).
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