Statistics for Missense/Nonsense mutations

Number of entries by amino acid substitutions

	A	R	N	D	C	Q	E	G	H	I	L	K	M	F	P	S	T	W	Y	V	X	Total	Mutated %	Codon usage %
Ala (A)	-	0	0	171	0	0	84	61	0	0	0	0	0	0	241	85	429	0	0	415	0	1494	4.78	7.06
Arg (R)	0	-	0	0	780	674	0	278	608	12	209	67	11	0	299	149	55	671	0	0	1444	5261	16.84	5.61
Asn (N)	0	0	-	102	0	0	0	0	45	75	0	208	0	0	0	212	53	0	50	0	0	747	2.39	3.62
Asp (D)	46	0	355	-	0	0	109	231	138	0	0	0	0	0	0	0	0	0	163	144	0	1192	3.81	4.75
Cys (C)	0	412	0	0	-	0	0	124	0	0	0	0	0	167	0	183	0	117	479	0	243	1726	5.52	2.22
Gln (Q)	0	161	0	0	0	-	56	0	91	0	32	54	0	0	118	0	0	0	0	0	1574	2088	6.68	4.61
Glu (E)	59	0	0	126	0	87	-	160	0	0	0	604	0	0	0	0	0	0	0	60	732	1830	5.86	6.89
Gly (G)	146	906	0	500	169	0	389	-	0	0	0	0	0	0	0	502	0	50	0	384	113	3167	10.13	6.60
His (H)	0	203	30	53	0	84	0	0	-	0	48	0	0	0	88	0	0	0	145	0	0	654	2.09	2.55
Ile (I)	0	19	121	0	0	0	0	0	0	-	35	23	88	81	0	70	317	0	0	118	0	877	2.81	4.54
Leu (L)	0	258	0	0	0	75	0	0	44	26	-	0	40	225	849	102	0	24	0	140	168	1965	6.29	10.05
Lys (K)	0	89	123	0	0	45	181	0	0	16	0	-	18	0	0	0	47	0	0	0	219	739	2.36	5.63
Met (M)	0	100	0	0	0	0	0	0	0	159	58	70	-	0	0	0	200	0	0	205	0	792	2.53	2.22
Phe (F)	0	0	0	0	91	0	0	0	0	45	235	0	0	-	0	189	0	0	16	66	0	646	2.07	3.77
Pro (P)	89	178	0	0	0	47	0	0	59	0	553	0	0	0	-	272	111	0	0	0	0	1314	4.20	6.10
Ser (S)	19	178	114	0	94	0	0	58	0	68	183	0	0	187	248	-	45	26	56	0	382	1667	5.33	7.99
Thr (T)	143	75	63	0	0	0	0	0	0	269	0	53	251	0	109	45	-	0	0	0	0	1019	3.26	5.36
Trp (W)	0	226	0	0	147	0	0	52	0	0	31	0	0	0	0	50	0	-	0	0	855	1361	4.36	1.27
Tyr (Y)	0	0	54	78	409	0	0	0	141	0	0	0	0	22	0	66	0	0	-	0	641	1416	4.53	2.76
Val (V)	167	0	0	95	0	0	87	132	0	158	134	0	330	122	0	0	0	0	0	-	0	1229	3.93	6.12
Term (X)	0	16	0	0	9	7	2	3	0	0	3	3	0	0	0	6	0	10	6	0	-	65	0.21	0.28

The codon usage figures quoted in the table are from the usage tables provided by Yasukazu Nakamura in the Codon Usage Database. Nakamura, Y., Gojobori, T. and Ikemura, T. (1999) Nucl. Acids Res. 27, 292.

Number of nonsense mutations logged in HGMD

	TAG	TGA	TAA	Total
Ala	0	0	0	0
Arg	0	1444	0	1444
Asn	0	0	0	0
Asp	0	0	0	0
Cys	0	243	0	243
Gln	1196	0	378	1574
Glu	383	0	349	732
Gly	0	113	0	113
His	0	0	0	0
Ile	0	0	0	0
Leu	47	72	49	168
Lys	111	0	108	219
Met	0	0	0	0
Phe	0	0	0	0
Pro	0	0	0	0
Ser	84	192	106	382
Thr	0	0	0	0
Trp	429	426	0	855
Tyr	326	0	315	641
Val	0	0	0	0

Statistics for Missense mutations

Number of entries by base substitutions

Wild type	G	T	A	C	Total
Guanine	--	1807	5925	1838	9570
Thymine	1215	--	858	2971	5044
Adenine	2398	692	--	838	3928
Cytosine	1317	3909	1111	--	6337

Statistics for Nonsense mutations

Number of entries by base substitutions

Wild type	G	T	A	C	Total
Guanine	--	845	856	0	1701
Thymine	180	--	263	0	443
Adenine	0	264	--	0	264
Cytosine	410	2973	581	--	3964

We ask our users to note that this dataset does not represent mutation rates in absolute terms. All base substitutions recorded in HGMD are from mutations brought to clinical attention because they are disease causing. A method of compensating for this bias has been devised, and details can be found in Krawczak et al Am J Hum Genet 63:474-488, 1998. The results of the meta-analysis of single base-pair substitutions described in this paper are also available

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