Table 7 Molecular analysis of PROS1 in... | American Society of Hematology

Table 7

Molecular analysis of PROS1 in subjects with free protein S level below 1st percentile, as determined in MEGA controls

Subject number*	Venous thrombosis	fPS (U/dL)	tPS (U/dL)	Sequence change†	Predicted protein change‡	Reference	Comments
1	No	16	123	—	—	—
2	Yes	18	63	967delTinsGG	Phe323fs		NOVEL
3	Yes	18	68	—	—	—	—
4	Yes	22	64	(?_-133)_(1_?*)del	Complete deletion	^5,10,11	—
5	Yes	30	74	—	—	—	—
6	Yes	30	58	431C>A	Thr144Asn	⁴⁰	Associated with quantitative deficiency of protein S
7	No	31	54	—	—	—	—
8	No	32	50	—	—	—	—
9	Yes	33	78	—	—	—	—
10	Yes	33	88	—	—	—	—
11	No	34	63
12	No	34	90	370G>A*	—	—	3′UTR. NOVEL
13	No	34	66	—	—	—	—
14	Yes	34	53	—	—	—	—
15	No	34	99	—	—	—	—
16	Yes	36	63	—	—	—	—
17	Yes	37	66	684C>G	Cys228Trp	—	NOVEL
18	No	37	57	—	—	—	—
19	Yes	38	60	—	—	—	—
20	No	39	96	—	—	—	—
21	Yes	39	81	—	—	—	—
22	No	39	65	—	—	—	—
23	Yes	40	70	—	—	—	—
24	Yes	40	58	—	—	—	—
25	No	40	74	1301T>C	Val434Ala		rs6803112
25	No	40	74	1501T>G	Ser501Ala	²³	Protein S Heerlen
26	Yes	40	76	—	—	—	—
27	No	40	81	—	—	—	—
28	No	40	57	—	—	—	—
29	No	41	76	—	—	—	—
30	Yes	41	61	—	—	—	—
31	Yes	41	53	—	—	—	—
32	No	41	81	1501T>G	Ser501Ala	²³	Protein S Heerlen
33	No	41	82	—	—	—	—
34	Yes	42	69	—	—	—	—
35	Yes	42	81	—	—	—	—
36	No	42	59	—	—	—	—
37	Yes	42	43	—	—	—	—
38	No	42	96	—	—	—	—
39	Yes	43	74	—	—	—	—
40	Yes	43	77	—	—	—	—
41	No	43	62	—	—	—	—
42	No	43	132	—	—	—	—
43	No	43	60	698G>A	Arg233Lys	^7,41,42	rs41267007
43	No	43	60	698G>A	Arg233Lys	^7,41,42	Probably neutral polymorphism
44	Yes	43	60	814G>A	Gly272Arg	—	rs41267005
45	No	44	61	1095T>G	Asn365Lys	—	NOVEL
46	No	44	63	—	—	—	—
47	No	45	88	—	—	—	—
48	Yes	45	77	—	—	—	—

Subject number*	Venous thrombosis	fPS (U/dL)	tPS (U/dL)	Sequence change†	Predicted protein change‡	Reference	Comments
1	No	16	123	—	—	—
2	Yes	18	63	967delTinsGG	Phe323fs		NOVEL
3	Yes	18	68	—	—	—	—
4	Yes	22	64	(?_-133)_(1_?*)del	Complete deletion	^5,10,11	—
5	Yes	30	74	—	—	—	—
6	Yes	30	58	431C>A	Thr144Asn	⁴⁰	Associated with quantitative deficiency of protein S
7	No	31	54	—	—	—	—
8	No	32	50	—	—	—	—
9	Yes	33	78	—	—	—	—
10	Yes	33	88	—	—	—	—
11	No	34	63
12	No	34	90	370G>A*	—	—	3′UTR. NOVEL
13	No	34	66	—	—	—	—
14	Yes	34	53	—	—	—	—
15	No	34	99	—	—	—	—
16	Yes	36	63	—	—	—	—
17	Yes	37	66	684C>G	Cys228Trp	—	NOVEL
18	No	37	57	—	—	—	—
19	Yes	38	60	—	—	—	—
20	No	39	96	—	—	—	—
21	Yes	39	81	—	—	—	—
22	No	39	65	—	—	—	—
23	Yes	40	70	—	—	—	—
24	Yes	40	58	—	—	—	—
25	No	40	74	1301T>C	Val434Ala		rs6803112
25	No	40	74	1501T>G	Ser501Ala	²³	Protein S Heerlen
26	Yes	40	76	—	—	—	—
27	No	40	81	—	—	—	—
28	No	40	57	—	—	—	—
29	No	41	76	—	—	—	—
30	Yes	41	61	—	—	—	—
31	Yes	41	53	—	—	—	—
32	No	41	81	1501T>G	Ser501Ala	²³	Protein S Heerlen
33	No	41	82	—	—	—	—
34	Yes	42	69	—	—	—	—
35	Yes	42	81	—	—	—	—
36	No	42	59	—	—	—	—
37	Yes	42	43	—	—	—	—
38	No	42	96	—	—	—	—
39	Yes	43	74	—	—	—	—
40	Yes	43	77	—	—	—	—
41	No	43	62	—	—	—	—
42	No	43	132	—	—	—	—
43	No	43	60	698G>A	Arg233Lys	^7,41,42	rs41267007
43	No	43	60	698G>A	Arg233Lys	^7,41,42	Probably neutral polymorphism
44	Yes	43	60	814G>A	Gly272Arg	—	rs41267005
45	No	44	61	1095T>G	Asn365Lys	—	NOVEL
46	No	44	63	—	—	—	—
47	No	45	88	—	—	—	—
48	Yes	45	77	—	—	—	—

Mutations are described accordingly to the Human Genome Variation Society.⁴³

– indicates individuals in whom no mutation was found.

fPS, free protein S; tPS, total protein S; MAF, minor allele frequency.

Numbers are accordingly to increasing levels of free protein S.

PROS1 coding DNA reference sequence is NM_000313.3.

Protein reference sequence is NP_000304.2.