Homozygous Change
c.625G>A (p.Val209Met)   c.225C>A (p.Asn75Lys)
Chromosome  1  1
Position (hg19)  31,208,094  33,354,724
Gene (RefSeq transcript)  LAPTM5 (NM_006762.2)  HPCA (NM_002143.2)
Previously reported  no  no
PhyloP  C (3.37)  C (2.71)
PhastCons  C (1)  C (1)
SIFT  D (0.001)  D (0.001)
PROVEAN  D (−2.7)  D (−5.239)
PolyPhen-2  D (0.999)  D (0.993)
MutationTaster  D (0.986)  D (0.999)
Functional domain of protein  no  yes: EF-hand domain 2