Assignment for the course in biomedical informatics

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Reference no: EM131239959

Assignment for the course in Biomedical informatics

1. Yes. It is pathogenic.

It's APOE.

It's not determined by a silent mutation.

Wild type: CGC (Arg) Muted: TGC (Cys)

Apolipoproteinemia E1, Familial type 3 hyperlipoproteinemia, atorvastatin response -Efficacy

2. 6

3. 10.

768
2
No

The variation of rs112034331 is deleterious. rs587778301 is tolerated.
rs112034331: NArs587778301: not provided

4. It is a silent mutation.
It is pathogenic.
It has effect on RNA splicing.

(e)

5.2

SNP	rs5743618	rs5743708	rs3775291	rs4986790	rs5743810	rs179008	rs2407992	rs4129009
Gene	TLR1	TLR2	TLR3	TLR4	TLR6	TLR7	TLR8	TLR10
Substitution	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	synonymous	Non-synonymous
Clinical significance	other	other	other	Benign	NA	NA	NA	NA
Determine amino acid subsitution	Ser→Lle	Arg→Gln	Leu→Phe	Asp→Gly	Ser→Pro	Gln→Leu	/	Lle→Val
Domain	LRRCT	TIR	-	-	-	-	/	TIR
MAF	0.2(C)	0.01(A)	0.23(T)	0.06(G)	0.12(A)	0.12(T)	0.28(G)	0.15(C)
Highest MAF	0.67(C) EUR	0.02(A) EUR	0.33(T) EAS	0.13(G) SAS	0.41(A) EUR	0.23(T) EUR	0.62(G) EUR	0.27(C) EAS
Lowest MAF	0.01(C) EAS	0(A) AFR/EAS/SAS	0.03(T) AFR	0(G) EAS	0(A) EAS	0(T) EAS	0.05(G) AFR	0.01(C) AFR
SIFT	1	0	0	0.15	0.56	0.29		0.28
Predicted effect	tolerated	deleterious	deleterious	tolerated	tolerated	tolerated		tolerated

rs5743317 Clinical Significance:NAMAF:0.01(G) SIFT:0.22
rs3775291 Clinical Significance: other MAF: 0.23(T) SIFT: 0
rs5743318 Clinical Significance: NA MAF:0.01(A) SIFT: 0.32

6. No. (reason)

It's in a coil region.

Reference no: EM131239959

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