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. Author manuscript; available in PMC: 2009 Oct 22.
Published in final edited form as: Pediatr Pulmonol. 2008 May;43(5):443–450. doi: 10.1002/ppul.20782

Table I.

SFTPB and SFTPC Mutations Examined

Gene SNP
position		 DNA Function Observed
Alleles		 Independent
Alleles		 Sporadic or
Inherited		 Allele Phenotype
SFTPB g.1549 C>GAA 121ins2
frameshift		 41 41 Inherited Unknown
SFTPC g.921 A>C H64P 1 1 Sporadic Paternal Onset 1mo;
died 14 yrs
SFTPC g.1295 T>C I73T 7 4 Sporadic Paternal Onset 4mo;
lung transplant
at 12 yrs 14
Inherited From father;
(asymptomatic)		 Intermittent
symptoms
between 7wks
and 20 mo;
asymptomatic
at 3 yrs 15
Unknown Unknown Onset 2mo;
lung transplant
at 5 yrs
Unknown Unknown Onset 14 mo;
O2 for 8 mo;
asymptomatic
at 6 yrs
SFTPC g.1348 ACTGCCACC/- Del ex 91-
93		 1 1 Sporadic Somatic
recombination		 Onset 3 mo;
lung transplant
14 mo 13
SFTPC g.1634 G>A c.350-1G>A 1 1 Sporadic Paternal Onset 4mo; O2
at night; 12 yrs
SFTPC g.1639 T>C L110P 1 1 Sporadic Paternal Onset 1 mo;
noninvasive
ventilation at 2
yrs
SFTPC g.2187 C>G L181V 2 1 Inherited From mother;
(asymptomatic)		 onset 6 wks;
died at 18 mo
SFTPC g.2211 T>G C189G 1 1 Unknown Unknown onset 1 week;
O2 until 2
years;
asymptomatic
at 3 years
SFTPC g.2211 T>C C189R 2 1 Inherited From father
(symptomatic)		 onset birth;
Follow-up
unknown