Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

Table 3 Summary of SNPs in theDMN gene.

			Nucleotide	Nucleotide	Amino Acid			# of chromosomes
SNP	Exon	Domain	Position	Change	Position		Amino Acid Change	Total	%
1	1	Rod	408	CGG	136		none	91	64.1
				CGA				51	35.9
2	1	Rod	457	A GG	153		none	91	64.1
				C GG				51	35.9
3	1	Rod	598	C AG	200	Gln	non-conservative	452	99.6
				T AG		STOP		2	0.4
4	2	Rod	815	GC G	272	Ala	conservative	103	57.9
				GT G		Val		75	42.1
5	3	C-terminal	988	G TT	330	Val	conservative	165	90.7
				A TT		Ile		17	9.3
6	4	C-terminal	1063	A GG	335	Arg	non-conservative	79	87.8
				T GG		Trp		11	12.2
7	4	C-terminal	1596	TCC	532		none	128	91.4
				TCT				12	8.6
8	4	C-terminal	1700	CC G	567	Pro	conservative	149	81.9
				CT G		Leu		33	18.1
9	4	C-terminal	1713	AGC	571		none	162	89.0
				AGT				20	11.0
10	4	C-terminal	1835	GA A	612	Glu	non-conservative	180	97.8
				GC A		Ala		4	2.2
11	4	C-terminal	1953	ACT	651		none	131	72.8
				ACC				49	27.2
12	4	C-terminal	2010	TAC	670		none	176	97.8
				TAT				4	2.2
13	4	C-terminal	2282	CC G	761	Pro	conservative	114	91.9
				CT G		Leu		10	8.1
14	4	C-terminal	2424	CCC	808		none	63	75.0
				CCT				21	25.0
15	4	C-terminal	2836	C GG	946	Arg	non-conservative	324	99.4
				T GG		Trp		2	0.6
16	4	C-terminal	2927	CA G	976	Gln	non-conservative	187	98.4
				CG G		Arg		3	1.6
17	4	C-terminal	2937	CCG	979		none	187	99.5
				CCA				1	0.5
18	4	C-terminal	3176	CC G	1059	Pro	conservative	126	98.4
				CT G		Leu		2	1.6
19	4	C-terminal	3195	TTC	1065		none	95	76.6
				TTT				29	23.4
20	4	C-terminal	3200	CG T	1067	Arg	non-conservative	114	91.9
				CC T		Pro		10	8.1
21	4	C-terminal	3230	TC A	1077	Ser	non-conservative	115	89.8
				TT A		Leu		13	10.2

The details of 21 SNPs are shown. The exon and domain location as well as the nucleotide and amino acid positions of SNP are given. Also listed are the major and minor alleles, both as nucleotide and amino acid, and the corresponding frequencies, in terms of numbers of chromosomes and percentage. The nucleotide substitution is highlighted in bold. The amino acid change indicates the degree of alteration in the encoded residue; the change is described as none if there was no change, conservative if the alteration does not change the residue's polarity or charge, and non-conservative if the polarity and/or charge of the encoded residues differ.

ISSN: 2730-6844