UNC13D
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Deletion Genomic: g.9283_9294del12
CDS: c.1822_1833del12
AnimoAcid: p.Val608_Ala611del		 Deletion Direct sequencing Feldmann J et al., 2003
2 Deletion Genomic: g.1512delC
CDS: c.214delC
AnimoAcid: p.Asn73ThrfsX3		 Deletion Direct sequencing Feldmann J et al., 2003
3 Insertion Genomic: g.9215_9216insT
CDS: c.1754_1755insT
AnimoAcid: p.His586fs		 Insertion Direct sequencing Feldmann J et al., 2003
4 Substitutions Genomic: g.8380G>A
CDS: c.1389+1G>A
AnimoAcid: p.Thr464fs		 Substitutions Direct sequencing Feldmann J et al., 2003
5 Substitutions Genomic: g.4401C>T
CDS: c.766C>T
AnimoAcid: p.Arg256X		 Substitutions Direct sequencing Feldmann J et al., 2003
6 Substitutions Genomic: g.4212G>T
CDS: c.753+1G>T
AnimoAcid: 		Substitutions Direct sequencing Feldmann J et al., 2003
7 Deletion Genomic: g.1475_1476delAC
CDS: c.177_178delAC
AnimoAcid: p.Tyr61HisfsX10		 Deletion Direct sequencing Zur Stadt U et al., 2006
8 Deletion Genomic: g.10622_10625delGGAG
CDS: c.2346_2349delGGAG
AnimoAcid: p.Arg782SerfsX12		 Deletion Direct sequencing Zur Stadt U et al., 2006
9 Substitutions Genomic: g.2290G>A
CDS: c.569+5G>A
AnimoAcid: 		Substitutions Direct sequencing Zur Stadt U et al., 2006
10 Substitutions Genomic: g.15911T>G
CDS: c.3131T>G
AnimoAcid: p.Leu1044Arg		 Substitutions Direct sequencing Zur Stadt U et al., 2006
11 Deletion Genomic: g.3900delT
CDS: c.627delT
AnimoAcid: p.Val210TrpfsX39		 Deletion Direct sequencing Zur Stadt U et al., 2006
12 Substitutions Genomic: g.4452C>T
CDS: c.817C>T
AnimoAcid: p.Arg273X		 Substitutions Direct sequencing Zur Stadt U et al., 2006
13 Substitutions Genomic: g.14103T>C
CDS: c.2672T>C
AnimoAcid: p.Leu891Pro		 Substitutions Direct sequencing Zur Stadt U et al., 2006
14 Substitutions Genomic: g.8056T>C
CDS: c.1208T>C
AnimoAcid: p.Leu403Pro		 Substitutions Direct sequencing Zur Stadt U et al., 2006
15 Substitutions Genomic: g.8811G>T
CDS: c.1545-1G>T
AnimoAcid: 		Substitutions Direct sequencing Zur Stadt U et al., 2006
16 Substitutions Genomic: g.16673C>T
CDS: c.3193C>T
AnimoAcid: p.Arg1065X		 Substitutions Direct sequencing Zur Stadt U et al., 2006
17 Substitutions Genomic: g.4618C>T
CDS: c.869C>T
AnimoAcid: p.Ser290Leu		 Substitutions Direct sequencing Zur Stadt U et al., 2006
18 Substitutions Genomic: g.8380G>A
CDS: c.1389+1G>A
AnimoAcid: 		Substitutions Direct sequencing Zur Stadt U et al., 2006
19 Substitutions Genomic: g.9221G>A
CDS: c.1760G>A
AnimoAcid: p.Arg587His		 Substitutions Direct sequencing Zur Stadt U et al., 2006
20 Substitutions Genomic: g.10286G>A
CDS: c.2191G>A
AnimoAcid: p.Val731Met		 Substitutions Direct sequencing Zur Stadt U et al., 2006
21 Substitutions Genomic: g.8089G>T
CDS: c.1241G>T
AnimoAcid: p.Arg414Leu		 Substitutions Direct sequencing Santoro A et al., 2006
22 Substitutions Genomic: g.14308C>T
CDS: c.2782C>T
AnimoAcid: p.Arg928Cys		 Substitutions Direct sequencing Santoro A et al., 2006
23 Substitutions Genomic: g.9308A>G
CDS: c.1847A>G
AnimoAcid: p.Glu616Gly		 Substitutions Direct sequencing Santoro A et al., 2006
24 Substitutions Genomic: g.4212G>T
CDS: c.753+1G>T
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2006
25 Substitutions Genomic: g.13565T>G
CDS: c.2570T>G
AnimoAcid: p.Phe857Cys		 Substitutions Direct sequencing Santoro A et al., 2006
26 Substitutions Genomic: g.1473G>A
CDS: c.175G>A
AnimoAcid: p.Ala59Thr		 Substitutions Direct sequencing Santoro A et al., 2006
27 Deletion Genomic: g.10622_10625delGGAG
CDS: c.2346_2349delGGAG
AnimoAcid: p.Arg782SerfsX12		 Deletion Direct sequencing Santoro A et al., 2006
28 Deletion Genomic: g.15862delC
CDS: c.3082delC
AnimoAcid: p.Leu1028X		 Deletion Direct sequencing Santoro A et al., 2006
29 Deletion Genomic: g.2248delC
CDS: c.532delC
AnimoAcid: p.Gln178ArgfsX71		 Deletion Direct sequencing Santoro A et al., 2006
30 Substitutions Genomic: g.3757A>G
CDS: c.610A>G
AnimoAcid: p.Met204Val		 Substitutions Direct sequencing Santoro A et al., 2006
31 Substitutions Genomic: g.14081C>T
CDS: c.2650C>T
AnimoAcid: p.Gln884X		 Substitutions Direct sequencing Santoro A et al., 2006
32 Duplications Genomic: g.16706dupG
CDS: c.3226dupG
AnimoAcid: p.His1076fs		 Duplications Direct sequencing Santoro A et al., 2006
33 Deletion Genomic: g.9283_9294del12
CDS: c.1822_1833del12
AnimoAcid: p.Val608_Ala611del		 Deletion Direct sequencing Santoro A et al., 2006
34 Deletion Genomic: g.2157delA
CDS: c.441delA
AnimoAcid: p.Gly149AlafsX13		 Deletion Direct sequencing Santoro A et al., 2006
35 Substitutions Genomic: g.4452C>T
CDS: c.817C>T
AnimoAcid: p.Arg273X		 Substitutions Direct sequencing Santoro A et al., 2006
36 Substitutions Genomic: g.10048G>C
CDS: c.2039G>C
AnimoAcid: p.Arg680Pro		 Substitutions Direct sequencing Santoro A et al., 2006
37 Duplications Genomic: g.9067dupA
CDS: c.1723dupA
AnimoAcid: p.Glu575fs		 Duplications Direct sequencing Yamamoto K et al., 2004
38 Substitutions Genomic: g.3913C>T
CDS: c.640C>T
AnimoAcid: p.Arg214X		 Substitutions Direct sequencing Yamamoto K et al., 2004
39 Substitutions Genomic: g.1794G>A
CDS: c.322-1G>A
AnimoAcid: p.Lys108_Ser129delfsX15		 Substitutions Direct sequencing Yamamoto K et al., 2004
40 Substitutions Genomic: g.4388G>C
CDS: c.754-1G>C
AnimoAcid: p.Asp252fsX89		 Substitutions Direct sequencing Yamamoto K et al., 2004
41 Substitutions Genomic: g.8864G>C
CDS: c.1596+1G>C
AnimoAcid: p.Val533fsX41		 Substitutions Direct sequencing Yamamoto K et al., 2004
42 Substitutions Genomic: g.8864G>C
CDS: c.1596+1G>C
AnimoAcid: p.Asn515_Leu532delfsX16		 Substitutions Direct sequencing Yamamoto K et al., 2004
43 Substitutions Genomic: g.4212G>T
CDS: c.753+1G>T
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2008
44 Substitutions Genomic: g.9308A>G
CDS: c.1847A>G
AnimoAcid: p.Glu616Gly		 Substitutions Direct sequencing Santoro A et al., 2008
45 Substitutions Genomic: g.4775G>A
CDS: c.952-1G>A
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2008
46 Substitutions Genomic: g.8380G>A
CDS: c.1389+1G>A
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2008
47 Substitutions Genomic: g.556C>T
CDS: c.117+59C>T
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2008
48 Substitutions Genomic: g.891C>T
CDS: c.117+394C>T
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2008
49 Substitutions Genomic: g.1022G>T
CDS: c.117+525G>T
AnimoAcid: 		Substitutions Direct sequencing Santoro A et al., 2008
50 Deletion Genomic: g.15121delA
CDS: c.2954+431delA
AnimoAcid: 		Deletion Direct sequencing Santoro A et al., 2008
51 Deletion Genomic: g.10622_10625delGGAG
CDS: c.2346_2349delGGAG
AnimoAcid: p.Arg782SerfsX12		 Deletion Direct sequencing Santoro A et al., 2008
52 Substitutions Genomic: g.8377C>T
CDS: c.1387C>T
AnimoAcid: p.Gln463X		 Substitutions Direct sequencing Santoro A et al., 2008
53 Substitutions Genomic: g.1545C>T
CDS: c.247C>T
AnimoAcid: p.Arg83X		 Substitutions PCR based assay Rudd E et al., 2008
54 Substitutions Genomic: g.14056G>A
CDS: c.2626-1G>A
AnimoAcid: 		Substitutions PCR based assay Rudd E et al., 2008
55 Substitutions Genomic: g.3913C>T
CDS: c.640C>T
AnimoAcid: p.Arg214X		 Substitutions PCR based assay Rudd E et al., 2008
56 Substitutions Genomic: g.14309G>C
CDS: c.2783G>C
AnimoAcid: p.Arg928Pro		 Substitutions PCR based assay Rudd E et al., 2008
57 Deletion Genomic: g.10622_10625delGGAG
CDS: c.2346_2349delGGAG
AnimoAcid: p.Arg782SerfsX12		 Deletion PCR based assay Rudd E et al., 2008
58 Substitutions Genomic: g.7889G>A
CDS: c.1145G>A
AnimoAcid: p.Trp382X		 Substitutions PCR based assay Rudd E et al., 2008
59 Substitutions Genomic: g.7889G>A
CDS: c.1145G>A
AnimoAcid: p.Trp382X		 Substitutions Direct sequencing Bryceson YT et al., 2007
60 Substitutions Genomic: g.4214G>A
CDS: c.753+3G>A
AnimoAcid: 		Substitutions NA Hazen MM et al., 2008
61 Substitutions Genomic: g.8846C>T
CDS: c.1579C>T
AnimoAcid: p.Arg527Trp		 Substitutions NA Hazen MM et al., 2008
62 Substitutions Genomic: g.1675C>T
CDS: c.292C>T
AnimoAcid: p.Gln98X		 Substitutions Direct sequencing Yoon HS et al., 2009
63 Substitutions Genomic: g.4388G>C
CDS: c.754-1G>C
AnimoAcid: 		Substitutions Direct sequencing Yoon HS et al., 2009
64 Substitutions Genomic: g.10000A>G
CDS: c.1993-2A>G
AnimoAcid: 		Substitutions Direct sequencing Yoon HS et al., 2009
65 Deletion Genomic: g.9037delG
CDS: c.1693delG
AnimoAcid: p.Glu565SerfsX7		 Deletion Direct sequencing Yoon HS et al., 2009
66 Substitutions Genomic: g.14695G>A
CDS: c.2954+5G>A
AnimoAcid: 		Substitutions Direct sequencing Yoon HS et al., 2009
67 Substitutions Genomic: g.10644G>A
CDS: c.2367+1G>A
AnimoAcid: 		Substitutions Direct sequencing Yoon HS et al., 2009
68 Substitutions Genomic: g.9281G>C
CDS: c.1820G>C
AnimoAcid: p.Arg607Pro		 Substitutions Direct sequencing Rohr J et al., 2010
69 Substitutions Genomic: g.11671A>G
CDS: c.2368-2A>G
AnimoAcid: 		Substitutions Direct sequencing Rohr J et al., 2010
70 Deletion Genomic: g.10622_10625delGGAG
CDS: c.2346_2349delGGAG
AnimoAcid: p.Arg782SerfsX12		 Deletion Direct sequencing Rohr J et al., 2010
71 Substitutions Genomic: g.4401C>T
CDS: c.766C>T
AnimoAcid: p.Arg256X		 Substitutions Direct sequencing Zhizhuo H et al., 2012
72 Substitutions Genomic: g.8063C>G
CDS: c.1215C>G
AnimoAcid: p.Tyr405X		 Substitutions Direct sequencing Zhizhuo H et al., 2012
73 Substitutions Genomic: g.8864G>C
CDS: c.1596+1G>C
AnimoAcid: p.Val533TrpfsX41		 Substitutions Direct sequencing Zhizhuo H et al., 2012
74 Substitutions Genomic: g.14141G>A
CDS: c.2709+1G>A
AnimoAcid: 		Substitutions Direct sequencing Zhizhuo H et al., 2012
75 Deletion Genomic: g.11686delT
CDS: c.2381delT
AnimoAcid: p.Leu794ArgfsX2		 Deletion Direct sequencing Meeths M et al., 2011
76 Substitutions Genomic: g.14073T>C
CDS: c.2642T>C
AnimoAcid: p.Leu881Pro		 Substitutions Direct sequencing Meeths M et al., 2011
77 Deletion Genomic: g.1512delC
CDS: c.214delC
AnimoAcid: p.Asn73ThrfsX3		 Deletion Direct sequencing Sieni E et al., 2011
78 Substitutions Genomic: g.1545C>T
CDS: c.247C>T
AnimoAcid: p.Arg83X		 Substitutions Direct sequencing Sieni E et al., 2011
79 Deletion Genomic: g.2157delA
CDS: c.441delA
AnimoAcid: p.Gly149AlafsX13		 Deletion Direct sequencing Sieni E et al., 2011
80 Deletion Genomic: g.2248delC
CDS: c.532delC
AnimoAcid: p.Gln178ArgfsX71		 Deletion Direct sequencing Sieni E et al., 2011
81 Substitutions Genomic: g.4212G>T
CDS: c.753+1G>T
AnimoAcid: 		Substitutions Direct sequencing Sieni E et al., 2011
82 Substitutions Genomic: g.4452C>T
CDS: c.817C>T
AnimoAcid: p.Arg273X		 Substitutions Direct sequencing Sieni E et al., 2011
83 Deletion Genomic: g.3900delT
CDS: c.627delT
AnimoAcid: p.Val210TrpfsX39		 Deletion Direct sequencing Sieni E et al., 2011
84 Substitutions Genomic: g.3913C>T
CDS: c.640C>T
AnimoAcid: p.Arg214X		 Substitutions Direct sequencing Sieni E et al., 2011
85 Substitutions Genomic: g.4775G>A
CDS: c.952-1G>A
AnimoAcid: 		Substitutions Direct sequencing Sieni E et al., 2011
86 Substitutions Genomic: g.4880G>A
CDS: c.1055+1G>A
AnimoAcid: 		Substitutions Direct sequencing Sieni E et al., 2011
87 Substitutions Genomic: g.7889G>A
CDS: c.1145G>A
AnimoAcid: p.Trp382X		 Substitutions Direct sequencing Sieni E et al., 2011
88 Substitutions Genomic: g.8041C>T
CDS: c.1193C>T
AnimoAcid: p.Ser398Leu		 Substitutions Direct sequencing Sieni E et al., 2011
89 Substitutions Genomic: g.8056T>C
CDS: c.1208T>C
AnimoAcid: p.Leu403Pro		 Substitutions Direct sequencing Sieni E et al., 2011
90 Deletion Genomic: g.8073delC
CDS: c.1225delC
AnimoAcid: p.Leu409SerfsX33		 Deletion Direct sequencing Sieni E et al., 2011
91 Substitutions Genomic: g.9308A>G
CDS: c.1847A>G
AnimoAcid: p.Glu616Gly		 Substitutions Direct sequencing Sieni E et al., 2011
92 Substitutions Genomic: g.9746T>C
CDS: c.1940T>C
AnimoAcid: p.Leu647Pro		 Substitutions Direct sequencing Sieni E et al., 2011
93 Substitutions Genomic: g.10066C>A
CDS: c.2057C>A
AnimoAcid: p.Ser686X		 Substitutions Direct sequencing Sieni E et al., 2011
94 Deletion Genomic: g.10622_10625delGGAG
CDS: c.2346_2349delGGAG
AnimoAcid: p.Arg782SerfsX12		 Deletion Direct sequencing Sieni E et al., 2011
95 Substitutions Genomic: g.14056G>A
CDS: c.2626-1G>A
AnimoAcid: 		Substitutions Direct sequencing Sieni E et al., 2011
96 Substitutions Genomic: g.14309G>C
CDS: c.2783G>C
AnimoAcid: p.Arg928Pro		 Substitutions Direct sequencing Sieni E et al., 2011
97 Substitutions Genomic: g.16673C>T
CDS: c.3193C>T
AnimoAcid: p.Arg1065X		 Substitutions Direct sequencing Sieni E et al., 2011
98 Insertion Genomic: g.2119insC
CDS: c.403insC
AnimoAcid: p.Tyr135LeufsX7		 Insertion Direct sequencing Sieni E et al., 2011
99 Substitutions Genomic: g.2135T>C
CDS: c.419T>C
AnimoAcid: p.Ile140Thr		 Substitutions Direct sequencing Sieni E et al., 2011
100 Substitutions Genomic: g.8377C>T
CDS: c.1387C>T
AnimoAcid: p.Gln463X		 Substitutions Direct sequencing Sieni E et al., 2011
101 Substitutions Genomic: g.10275G>A
CDS: c.2180G>A
AnimoAcid: p.Arg727Gln		 Substitutions Direct sequencing Sieni E et al., 2011
102 Substitutions Genomic: g.10307C>T
CDS: c.2212C>T
AnimoAcid: p.Gln738X		 Substitutions Direct sequencing Sieni E et al., 2011
103 Deletion-Insertion Genomic: g.11742_11744delAACinsT
CDS: c.2437_2439delAACinsT
AnimoAcid: p.Asn813PhefsX47		 Deletion-Insertion Direct sequencing Sieni E et al., 2011
104 Deletion Genomic: g.13399_13402delTCAC
CDS: c.2477_2480delTCAC
AnimoAcid: p.Leu826GlnfsX20		 Deletion Direct sequencing Sieni E et al., 2011
105 Substitutions Genomic: g.13570G>A
CDS: c.2575G>A
AnimoAcid: p.Ala859Thr		 Substitutions Direct sequencing Sieni E et al., 2011
106 Substitutions Genomic: g.15829G>A
CDS: c.3049G>A
AnimoAcid: p.Glu1017Lys		 Substitutions Direct sequencing Sieni E et al., 2011
107 Substitutions Genomic: g.10048G>C
CDS: c.2039G>C
AnimoAcid: p.Arg680Pro		 Substitutions Direct sequencing Sieni E et al., 2011
108 Deletion Genomic: g.9283_9294del12
CDS: c.1822_1833del12
AnimoAcid: p.Val608_Ala611del		 Deletion Direct sequencing Sieni E et al., 2011
109 Deletion Genomic: g.15862delC
CDS: c.3082delC
AnimoAcid: p.Leu1028X		 Deletion Direct sequencing Sieni E et al., 2011
110 Substitutions Genomic: c.118-307G>A
CDS: r.118-307g>a
AnimoAcid: 		Substitutions Direct sequencing Entesarian M et al., 2013
111 Substitutions Genomic: g.8378A>C
CDS: c.1388A>C
AnimoAcid: p.Gln463Pro		 Substitutions Direct sequencing Entesarian M et al., 2013
112 Substitutions Genomic: -
CDS: c.118-308C>T
AnimoAcid: 		Substitutions Direct sequencing Seo JY et al., 2013
113 Substitutions Genomic: g.1675C>T
CDS: c.292C>T
AnimoAcid: p.Gln98X		 Substitutions Direct sequencing Seo JY et al., 2013
114 Substitutions Genomic: g.4388G>C
CDS: c.754-1G>C
AnimoAcid: 		Substitutions Direct sequencing Seo JY et al., 2013
115 Substitutions Genomic: g.10000A>G
CDS: c.1993-2A>G
AnimoAcid: 		Substitutions Direct sequencing Seo JY et al., 2013
116 Deletion Genomic: g.9037delG
CDS: c.1693delG
AnimoAcid: p.Glu565SerfsX7		 Deletion Direct sequencing Seo JY et al., 2013
117 Substitutions Genomic: g.14695G>A
CDS: c.2954+5G>A
AnimoAcid: 		Substitutions Direct sequencing Seo JY et al., 2013
118 Substitutions Genomic: g.10644G>A
CDS: c.2367+1G>A
AnimoAcid: 		Substitutions Direct sequencing Seo JY et al., 2013
119 Substitutions Genomic: g.4880G>A
CDS: c.1055+1G>A
AnimoAcid: 		Substitutions Direct sequencing Seo JY et al., 2013
120 Substitutions Genomic: g.1545C>T
CDS: c.247C>T
AnimoAcid: p.Arg83X		 Substitutions Direct sequencing Seo JY et al., 2013