SH2D1A
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Coffey AJ et al., 1998
2 Substitutions Genomic: g.19514C>T
CDS: c.172C>T
AnimoAcid: p.Gln58X		 Substitutions Direct sequencing Coffey AJ et al., 1998
3 Substitutions Genomic: g.456G>C
CDS: c.95G>C
AnimoAcid: p.Arg32Thr		 Substitutions Direct sequencing Coffey AJ et al., 1998
4 Substitutions Genomic: g.19543G>T
CDS: c.201G>T
AnimoAcid: p.Glu67Asp		 Substitutions Direct sequencing Coffey AJ et al., 1998
5 Substitutions Genomic: g.25108T>A
CDS: c.385T>A
AnimoAcid: p.X129Arg		 Substitutions Direct sequencing Coffey AJ et al., 1998
6 Substitutions Genomic: g.23995C>T
CDS: c.302C>T
AnimoAcid: p.Pro101Leu		 Substitutions Direct sequencing Coffey AJ et al., 1998
7 Substitutions Genomic: g.23896C>T
CDS: c.203C>T
AnimoAcid: p.Thr68Ile		 Substitutions Direct sequencing Coffey AJ et al., 1998
8 Substitutions Genomic: g.19477C>G
CDS: c.138-3C>G
AnimoAcid: p.Tyr47GlnfsX13		 Substitutions Direct sequencing Sayos J et al., 1998
9 Substitutions Genomic: g.23993T>A
CDS: c.300T>A
AnimoAcid: p.Tyr100X		 Substitutions Direct sequencing, SSCP Brandau O et al., 1999
10 Deletion Genomic: g.23933_23946del14
CDS: c.240_253del14
AnimoAcid: p.Lys81fs		 Deletion Direct sequencing, SSCP Brandau O et al., 1999
11 Substitutions Genomic: g.23896C>T
CDS: c.203C>T
AnimoAcid: p.Thr68Ile		 Substitutions Direct sequencing, SSCP Brandau O et al., 1999
12 Substitutions Genomic: g.23995C>T
CDS: c.302C>T
AnimoAcid: p.Pro101Leu		 Substitutions Direct sequencing, SSCP Brandau O et al., 1999
13 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Sumegi J et al., 2000
14 Deletion Genomic: g.19482_19528del
CDS: c.140_186del
AnimoAcid: p.Tyr47fs		 Deletion Direct sequencing Sumegi J et al., 2000
15 Substitutions Genomic: g.19533G>A
CDS: c.191G>A
AnimoAcid: p.Trp64X		 Substitutions Direct sequencing Sumegi J et al., 2000
16 Substitutions Genomic: g.23998T>G
CDS: c.305T>G
AnimoAcid: p.Val102Gly		 Substitutions Direct sequencing Sumegi J et al., 2000
17 Substitutions Genomic: g.381A>G
CDS: c.20A>G
AnimoAcid: p.Tyr7Cys		 Substitutions Direct sequencing Sumegi J et al., 2000
18 Substitutions Genomic: g.445C>G
CDS: c.84C>G
AnimoAcid: p.Tyr29Arg		 Substitutions Direct sequencing Sumegi J et al., 2000
19 Substitutions Genomic: g.487C>G
CDS: c.126C>G
AnimoAcid: p.Cys42Trp		 Substitutions Direct sequencing Sumegi J et al., 2000
20 Substitutions Genomic: g.19500C>G
CDS: c.158C>G
AnimoAcid: p.Thr53Arg		 Substitutions Direct sequencing Sumegi J et al., 2000
21 Substitutions Genomic: g.23953T>C
CDS: c.260T>C
AnimoAcid: p.Phe87Ser		 Substitutions Direct sequencing Sumegi J et al., 2000
22 Substitutions Genomic: g.23989A>C
CDS: c.296A>C
AnimoAcid: p.Gln99Pro		 Substitutions Direct sequencing Sumegi J et al., 2000
23 Substitutions Genomic: g.453T>C
CDS: c.92T>C
AnimoAcid: p.Leu31Pro		 Substitutions Direct sequencing Sumegi J et al., 2000
24 Substitutions Genomic: g.19503A>G
CDS: c.161A>G
AnimoAcid: p.Tyr54Cys		 Substitutions Direct sequencing Sumegi J et al., 2000
25 Substitutions Genomic: g.19543G>T
CDS: c.201G>T
AnimoAcid: p.Glu67Asp		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2000
26 Substitutions Genomic: g.477G>T
CDS: c.116G>T
AnimoAcid: p.Gly39Val		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2000
27 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Lappalainen I et al., 2000
28 Substitutions Genomic: g.364G>T
CDS: c.3G>T
AnimoAcid: p.Met1Ile		 Substitutions Direct sequencing Lappalainen I et al., 2000
29 Substitutions Genomic: g.456G>C
CDS: c.95G>C
AnimoAcid: p.Arg32X		 Substitutions Direct sequencing Yin L et al., 1999
30 Deletion Genomic: g.482_496del
CDS: c.121_135del
AnimoAcid: p.Tyr41fs		 Deletion Direct sequencing Yin L et al., 1999
31 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Yin L et al., 1999
32 Substitutions Genomic: g.19514C>T
CDS: c.172C>T
AnimoAcid: p.Gln58X		 Substitutions Direct sequencing Yin L et al., 1999
33 Substitutions Genomic: g.19506G>T
CDS: c.164G>T
AnimoAcid: p.Arg55Leu		 Substitutions Direct sequencing Dutz JP et al., 2001
34 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Arico M et al., 2001
35 Substitutions Genomic: g.23921T>A
CDS: c.228T>A
AnimoAcid: p.Tyr76X		 Substitutions Direct sequencing Arico M et al., 2001
36 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Sumazaki R et al., 2001
37 Deletion Genomic: g.23978delA
CDS: c.285delA
AnimoAcid: p.Ile96Tyrfs22		 Deletion Direct sequencing Sumazaki R et al., 2001
38 Substitutions Genomic: g.458G>T
CDS: c.97G>T
AnimoAcid: p.Asp33Tyr		 Substitutions Direct sequencing Sumazaki R et al., 2001
39 Substitutions Genomic: g.440G>A
CDS: c.79G>A
AnimoAcid: p.Gly27Ser		 Substitutions Direct sequencing Sumazaki R et al., 2001
40 Substitutions Genomic: g.383C>G
CDS: c.22C>G
AnimoAcid: p.His8Asp		 Substitutions Direct sequencing Sumazaki R et al., 2001
41 Substitutions Genomic: g.19488G>T
CDS: c.146G>T
AnimoAcid: p.Gly49Val		 Substitutions Direct sequencing Sumazaki R et al., 2001
42 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Morra M et al., 2001
43 Deletion Genomic: g.23949_23956del8
CDS: c.256_263del8
AnimoAcid: p.Ala86fs		 Deletion Direct sequencing Morra M et al., 2001
44 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions SSCP Parolini O et al., 2002
45 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Shinozaki K et al., 2002
46 Substitutions Genomic: g.24006A>G
CDS: c.313A>G
AnimoAcid: p.Lys105Glu		 Substitutions Direct sequencing Shinozaki K et al., 2002
47 Substitutions Genomic: g.463C>A
CDS: c.102C>A
AnimoAcid: p.Ser34Arg		 Substitutions Direct sequencing Tabata Y et al., 2005
48 Substitutions Genomic: g.19478A>C
CDS: c.138-2A>C
AnimoAcid: p.Tyr47GlnfsX13		 Substitutions Direct sequencing Tabata Y et al., 2005
49 Substitutions Genomic: g.19478A>G
CDS: c.138-2A>G
AnimoAcid: 		Substitutions Direct sequencing Tabata Y et al., 2005
50 Substitutions Genomic: g.19546A>G
CDS: c.201+3A>G
AnimoAcid: p.Tyr47Ilefs		 Substitutions Direct sequencing Tabata Y et al., 2005
51 Substitutions Genomic: g.19533G>A
CDS: c.191G>A
AnimoAcid: p.Trp64X		 Substitutions Direct sequencing Tabata Y et al., 2005
52 Substitutions Genomic: g.408G>A
CDS: c.47G>A
AnimoAcid: p.Gly16Asp		 Substitutions Direct sequencing Erdos M et al., 2005
53 Substitutions Genomic: g.19503A>G
CDS: c.161A>G
AnimoAcid: p.Tyr54Cys		 Substitutions Direct sequencing Hare NJ et al., 2006
54 Substitutions Genomic: g.23952T>C
CDS: c.259T>C
AnimoAcid: p.Phe87Leu		 Substitutions Direct sequencing Hare NJ et al., 2006
55 Substitutions Genomic: g.19494T>C
CDS: c.152T>C
AnimoAcid: p.Ile51Thr		 Substitutions Direct sequencing Hare NJ et al., 2006
56 Substitutions Genomic: g.384A>C
CDS: c.23A>C
AnimoAcid: p.His8Pro		 Substitutions Direct sequencing Alangari A et al., 2006
57 Substitutions Genomic: g.19506G>T
CDS: c.164G>T
AnimoAcid: p.Arg55Leu		 Substitutions Direct sequencing Soresina A et al., 2002
58 Substitutions Genomic: g.23956A>C
CDS: c.263A>C
AnimoAcid: p.Gln88Pro		 Substitutions Direct sequencing Soresina A et al., 2002
59 Substitutions Genomic: g.499G>A
CDS: c.137+1G>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Aghamohammadi A et al., 2003
60 Duplications Genomic: g.19488dupG
CDS: c.146dupG
AnimoAcid: p.Tyr50LeufsX18		 Duplications NA Hugle B et al., 2007
61 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Nichols KE et al., 1998
62 Substitutions Genomic: g.19514C>T
CDS: c.172C>T
AnimoAcid: p.Gln58X		 Substitutions Direct sequencing Nichols KE et al., 1998
63 Deletion Genomic: g.19525_23898del
CDS: c.183_205del
AnimoAcid: p.Gly62ThrfsX5		 Deletion Direct sequencing Nichols KE et al., 1998
64 Deletion Genomic: g.19480+?_19543-?del51
CDS: c.138+?_201-?del51
AnimoAcid: 		Deletion Direct sequencing, PCR based assay My LT et al., 2010
65 Substitutions Genomic: g.23989A>C
CDS: c.296A>C
AnimoAcid: p.Gln99Pro		 Substitutions Direct sequencing Lewis J et al., 2001
66 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Lewis J et al., 2001
67 Deletion Genomic: g.(19480-?)_19543+?del
CDS: c.(138-?)_201+?del
AnimoAcid: 		Deletion Direct sequencing Lewis J et al., 2001
68 Substitutions Genomic: g.19506G>T
CDS: c.164G>T
AnimoAcid: p.Arg55Leu		 Substitutions Direct sequencing Benoit L et al., 2000
69 Deletion Genomic: chrX:g.(?_123480132)_(123507010_?)del (NCBI Build 37.2)
CDS:
AnimoAcid: 		Deletion FISH Honda K et al., 2000
70 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Yang X et al., 2011
71 Deletion Genomic: -
CDS: c.1-?_c.387+?del
AnimoAcid: 		Deletion Southern blotting Hugle B et al., 2004
72 Substitutions Genomic: g.440G>A
CDS: c.79G>A
AnimoAcid: p.Gly27Ser		 Substitutions Direct sequencing Hugle B et al., 2004
73 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Hugle B et al., 2004
74 Substitutions Genomic: g.503G>C
CDS: c.137+5G>C
AnimoAcid: 		Substitutions Direct sequencing Recher M et al., 2012
75 Substitutions Genomic: g.381A>G
CDS: c.20A>G
AnimoAcid: p.Tyr7Cys		 Substitutions Direct sequencing Hoshino T et al., 2005
76 Substitutions Genomic: g.383C>G
CDS: c.22C>G
AnimoAcid: p.His8Asp		 Substitutions Direct sequencing Kanegane H et al., 2012
77 Substitutions Genomic: g.19505C>T
CDS: c.163C>T
AnimoAcid: p.Arg55X		 Substitutions Direct sequencing Kanegane H et al., 2012
78 Insertion Genomic: g.23932insA
CDS: c.239insA
AnimoAcid: p.Asn82LysfsX22		 Insertion Direct sequencing Kanegane H et al., 2012
79 Substitutions Genomic: g.478C>T
CDS: c.117C>T
AnimoAcid: 		Substitutions Direct sequencing Kanegane H et al., 2012