Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes

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Table 3 In silico assessment of rare ADIPOQ variations (SNV)

SNV	POS	rs number	SIFT				PolyPhen-2
SNV	POS	rs number	Prediction	Score	Median Information Content	# Seqs	HdivPred	HDivProb	HvarPred	HVarProb
MIS	186570850	--	-	-	-	-	Benign	0.141	Benign	0.028
P32L	186570942	--	Tolerated*	0.11*	2.32	99	Possibly Damaging	0.956	Possibly Damaging	0.478
R55C	186571010	rs138227502	Damaging	0.05	2.22	163	Probably Damaging	1	Probably Damaging	1
Y111H	186572089	rs17366743	Tolerated	0.55	2.15	185	Benign	0.006	Benign	0.012
R112C	186572092	rs79645624	Damaging	0.05	2.15	185	Probably Damaging	1	Probably Damaging	0.947

SIFT and PolyPhen-2 were utilized to predict the possible impact of amino acid substitutions on the structure and function of ADIPOQ (ESNP00000389814, NP_001171271.1). Position (POS) is based on NCBI Build 37. R112C is the mutation known to cause Adiponectin deficiency Takahashi et al. (2000). SIFT: The SIFT Score ranges from 0 to 1. The amino acid substitution is predicted damaging if the score is < = 0.05, and tolerated if the score is >0.05. The Median Information Content gives the diversity of the sequences used for prediction. The # Seqs gives the number of sequences that have an amino acid that the position of prediction. There were insufficient sequences to predict the effect of MIS using the SIFT algorithm. *Given the fact that P32L falls in a evolutionary hyper variable region, the tolerated prediction is expected. PolyPhen-2: the naive Bayes posterior probability that a given mutation is damaging and reports estimates of false positive (the chance that the mutation is classified as damaging when it is in fact non-damaging) and true positive (the chance that the mutation is classified as damaging when it is indeed damaging). HdivPred and HVarPred are predictions based upon distinct learning sets.