Table 4.

Novel mutations identified in this study and related information (NM_000320)

Codon and nucleotide changes	Type of mutation	Exon	Amino acid change	cDNA change	No. seen	SIFT suggestion	Polyphen suggestion
Cd115	Nonsense	4	p.(S115*)	c.[344C>A];[344C>A]	2	Tolerated	–
TCG>TAG
Cd17	Missense	1	p. [(Gly17Cys)]	c.[49G>T];[49G>T]	1	Damaging	Probably damaging sensitivity: 0.00; specificity: 1.00
GGC>TGC
Cd217	Deletion	7	–	c.649 del A	1	–	–
del A
Cd185	Missense	6	p. [(Leu185Pro)]	c.[554 T>C];[554 T>C]	1	Damaging	Probably damaging sensitivity: 0.00; specificity: 1.00
CTG>CCG
Cd89	Missense	3	p. [(Gly89Arg)]	c.[265G>A];[265G>A]	1	Damaging	Probably damaging sensitivity: 0.00; specificity: 1.00
GGA>AGA
Cd 115	Missense	4	p. [(Ser 115Leu)]	c.[344C>T];[344C>T]	1	Tolerated	Probably damaging sensitivity: 0.00; specificity: 1.00
TCG>TTG
Cd225	Missense	7	p. [(Gly225Arg)]	c.[673G>A];[673G>A]	1	Damaging	Probably damaging sensitivity: 0.00; specificity: 1.00
GGA>AGA
Cd 237	Missense	7	p. [(Thr237Met)]	c.[710C>T];[710C>T]	1	Damaging	Probably damaging sensitivity: 0.00; specificity: 1.00
ACG>ATG
Cd 114	Missense	4	p. [(Thr114Ile)]	c.[341C>T];[341C>T]	2	Damaging Score: 0.02	Probably damaging score: 0.998; sensitivity: 0.27; specificity: 0.99
ACA>ATA
Cd 163	Missense	5	p. [(Ser163Asn)]	c.[488G>A];[488G>A]	1	Damaging Score: 0.01	Possibly damaging score: 0.885 sensitivity: 0.82; specificity: 0.94
AGC>AAC