mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997063 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228494790G>AN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000366709

Genbank transcript ID

N/A

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3472G>A
cDNA.12159G>A
g.98960G>A

AA changes

G1158R Score: 125 explain score(s)

position(s) of altered AA
if AA alteration in CDS

1158

frameshift

known variant

Reference ID: rs435776

database	homozygous (A/A)	heterozygous	allele carriers
1000G	247	851	1098
ExAC	11098	10571	21669

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.635	0
	0.358	0
(flanking)	0.113	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	98952	wt: 0.65 / mu: 0.78	wt: GCTGCTGGTACGCGG mu: GCTGCTGGTACGCAG	TGCT\|ggta
Donor marginally increased	98957	wt: 0.9796 / mu: 0.9810 (marginal change - not scored)	wt: TGGTACGCGGAGTGG mu: TGGTACGCAGAGTGG	GTAC\|gcgg
Donor marginally increased	98962	wt: 0.9954 / mu: 0.9971 (marginal change - not scored)	wt: CGCGGAGTGGAGCAG mu: CGCAGAGTGGAGCAG	CGGA\|gtgg
Donor gained	98960	0.81	mu: TACGCAGAGTGGAGC	CGCA\|gagt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1158

mutated

not conserved

1158

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000023096

1038

Fcatus

not conserved

ENSFCAG00000000673

4039

Mmusculus

not conserved

ENSMUSG00000061462

4267

Ggallus

not conserved

ENSGALG00000004754

4046

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1070	1161	DOMAIN	Ig-like 11.	lost
1162	1252	DOMAIN	Ig-like 12.	might get lost (downstream of altered splice site)
1188	1188	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1207	1210	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1238	1238	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1254	1345	DOMAIN	Ig-like 13.	might get lost (downstream of altered splice site)
1280	1280	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1299	1302	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1330	1330	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1346	1432	DOMAIN	Ig-like 14.	might get lost (downstream of altered splice site)
1348	1348	CONFLICT	A -> V (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1355	1355	CONFLICT	L -> P (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1357	1357	CONFLICT	H -> R (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1359	1359	CONFLICT	K -> E (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1360	1360	CONFLICT	V -> L (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1367	1367	CONFLICT	I -> S (in Ref. 1; CAC85746/CAC85749).	might get lost (downstream of altered splice site)
1372	1372	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1391	1394	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1394	1394	CONFLICT	S -> L (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1397	1397	CONFLICT	R -> C (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1397	1398	CONFLICT	RM -> HV (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1401	1401	CONFLICT	V -> A (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1401	1401	CONFLICT	V -> T (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1413	1413	CONFLICT	C -> G (in Ref. 1; CAC85746/CAC85749).	might get lost (downstream of altered splice site)
1417	1417	CONFLICT	T -> A (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1422	1422	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1428	1428	CONFLICT	R -> Q (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1432	1432	CONFLICT	S -> H (in Ref. 1; CAC85746).	might get lost (downstream of altered splice site)
1438	1524	DOMAIN	Ig-like 15.	might get lost (downstream of altered splice site)
1445	1445	CONFLICT	E -> D (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1455	1455	CONFLICT	Q -> E (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1458	1458	CONFLICT	A -> T (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1461	1461	CONFLICT	T -> M (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1464	1464	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1514	1514	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1524	1524	CONFLICT	H -> R (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1526	1526	CONFLICT	H -> Q (in Ref. 1; CAC85749).	might get lost (downstream of altered splice site)
1530	1621	DOMAIN	Ig-like 16.	might get lost (downstream of altered splice site)
1556	1556	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1575	1578	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1580	1582	CONFLICT	VRM -> MRV (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1606	1606	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1607	1607	CONFLICT	K -> E (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1610	1610	CONFLICT	D -> G (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1622	1719	DOMAIN	Ig-like 17.	might get lost (downstream of altered splice site)
1633	1633	CONFLICT	H -> C (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1634	1639	STRAND		might get lost (downstream of altered splice site)
1644	1646	STRAND		might get lost (downstream of altered splice site)
1648	1648	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1653	1655	STRAND		might get lost (downstream of altered splice site)
1653	1655	CONFLICT	AQT -> GQM (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1658	1661	STRAND		might get lost (downstream of altered splice site)
1667	1670	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1670	1677	STRAND		might get lost (downstream of altered splice site)
1673	1674	CONFLICT	RV -> HM (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1677	1679	CONFLICT	VGC -> SGY (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
1680	1685	STRAND		might get lost (downstream of altered splice site)
1690	1692	TURN		might get lost (downstream of altered splice site)
1692	1692	CONFLICT	E -> D (in Ref. 1; CAC44768/CAC85750).	might get lost (downstream of altered splice site)
1696	1700	STRAND		might get lost (downstream of altered splice site)
1698	1698	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1704	1704	CONFLICT	Q -> R (in Ref. 1; CAC44768/CAC85750).	might get lost (downstream of altered splice site)
1707	1712	STRAND		might get lost (downstream of altered splice site)
1710	1710	CONFLICT	Q -> H (in Ref. 1; CAC44768/CAC85750).	might get lost (downstream of altered splice site)
1723	1723	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1731	1808	DOMAIN	Fibronectin type-III 2.	might get lost (downstream of altered splice site)
1791	1791	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1809	1894	DOMAIN	Ig-like 18.	might get lost (downstream of altered splice site)
1830	1830	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1848	1848	CONFLICT	L -> P (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
1880	1880	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1896	1982	DOMAIN	Ig-like 19.	might get lost (downstream of altered splice site)
1987	2071	DOMAIN	Ig-like 20.	might get lost (downstream of altered splice site)
2014	2014	CONFLICT	P -> A (in Ref. 1; CAC85750).	might get lost (downstream of altered splice site)
2077	2162	DOMAIN	Ig-like 21.	might get lost (downstream of altered splice site)
2165	2249	DOMAIN	Ig-like 22.	might get lost (downstream of altered splice site)
2187	2187	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2237	2237	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2289	2380	DOMAIN	Ig-like 23.	might get lost (downstream of altered splice site)
2311	2311	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2361	2361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2468	2559	DOMAIN	Ig-like 24.	might get lost (downstream of altered splice site)
2490	2490	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2540	2540	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2564	2643	DOMAIN	Ig-like 25.	might get lost (downstream of altered splice site)
2646	2730	DOMAIN	Ig-like 26.	might get lost (downstream of altered splice site)
2668	2668	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2718	2718	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2736	2823	DOMAIN	Ig-like 27.	might get lost (downstream of altered splice site)
2745	2750	STRAND		might get lost (downstream of altered splice site)
2753	2758	STRAND		might get lost (downstream of altered splice site)
2771	2776	STRAND		might get lost (downstream of altered splice site)
2784	2788	STRAND		might get lost (downstream of altered splice site)
2791	2796	STRAND		might get lost (downstream of altered splice site)
2801	2803	TURN		might get lost (downstream of altered splice site)
2807	2811	STRAND		might get lost (downstream of altered splice site)
2814	2818	STRAND		might get lost (downstream of altered splice site)
2820	2823	STRAND		might get lost (downstream of altered splice site)
2826	2908	DOMAIN	Ig-like 28.	might get lost (downstream of altered splice site)
2829	2831	STRAND		might get lost (downstream of altered splice site)
2836	2838	STRAND		might get lost (downstream of altered splice site)
2844	2846	STRAND		might get lost (downstream of altered splice site)
2848	2848	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2849	2854	STRAND		might get lost (downstream of altered splice site)
2859	2863	STRAND		might get lost (downstream of altered splice site)
2869	2877	STRAND		might get lost (downstream of altered splice site)
2880	2887	STRAND		might get lost (downstream of altered splice site)
2890	2892	TURN		might get lost (downstream of altered splice site)
2894	2899	STRAND		might get lost (downstream of altered splice site)
2898	2898	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2904	2911	STRAND		might get lost (downstream of altered splice site)
2920	2999	DOMAIN	Ig-like 29.	might get lost (downstream of altered splice site)
2925	2928	STRAND		might get lost (downstream of altered splice site)
2931	2938	STRAND		might get lost (downstream of altered splice site)
2937	2937	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2947	2952	STRAND		might get lost (downstream of altered splice site)
2957	2966	STRAND		might get lost (downstream of altered splice site)
2969	2976	STRAND		might get lost (downstream of altered splice site)
2979	2981	TURN		might get lost (downstream of altered splice site)
2983	2988	STRAND		might get lost (downstream of altered splice site)
2987	2987	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2996	3001	STRAND		might get lost (downstream of altered splice site)
3003	3092	DOMAIN	Ig-like 30.	might get lost (downstream of altered splice site)
3006	3009	STRAND		might get lost (downstream of altered splice site)
3013	3017	STRAND		might get lost (downstream of altered splice site)
3027	3030	STRAND		might get lost (downstream of altered splice site)
3037	3042	STRAND		might get lost (downstream of altered splice site)
3048	3050	STRAND		might get lost (downstream of altered splice site)
3057	3059	TURN		might get lost (downstream of altered splice site)
3063	3065	STRAND		might get lost (downstream of altered splice site)
3070	3072	TURN		might get lost (downstream of altered splice site)
3074	3080	STRAND		might get lost (downstream of altered splice site)
3087	3092	STRAND		might get lost (downstream of altered splice site)
3095	3183	DOMAIN	Ig-like 31.	might get lost (downstream of altered splice site)
3117	3117	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3126	3126	CONFLICT	V -> M (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
3167	3167	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3184	3268	DOMAIN	Ig-like 32.	might get lost (downstream of altered splice site)
3187	3189	STRAND		might get lost (downstream of altered splice site)
3194	3197	STRAND		might get lost (downstream of altered splice site)
3202	3210	STRAND		might get lost (downstream of altered splice site)
3206	3206	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3216	3219	STRAND		might get lost (downstream of altered splice site)
3227	3235	STRAND		might get lost (downstream of altered splice site)
3238	3243	STRAND		might get lost (downstream of altered splice site)
3248	3250	HELIX		might get lost (downstream of altered splice site)
3252	3258	STRAND		might get lost (downstream of altered splice site)
3256	3256	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3261	3270	STRAND		might get lost (downstream of altered splice site)
3273	3356	DOMAIN	Ig-like 33.	might get lost (downstream of altered splice site)
3295	3295	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3344	3344	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3359	3444	DOMAIN	Ig-like 34.	might get lost (downstream of altered splice site)
3371	3374	STRAND		might get lost (downstream of altered splice site)
3383	3383	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3386	3388	STRAND		might get lost (downstream of altered splice site)
3392	3397	STRAND		might get lost (downstream of altered splice site)
3402	3405	STRAND		might get lost (downstream of altered splice site)
3407	3410	STRAND		might get lost (downstream of altered splice site)
3412	3421	STRAND		might get lost (downstream of altered splice site)
3424	3426	TURN		might get lost (downstream of altered splice site)
3430	3433	STRAND		might get lost (downstream of altered splice site)
3432	3432	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3438	3441	STRAND		might get lost (downstream of altered splice site)
3443	3446	STRAND		might get lost (downstream of altered splice site)
3449	3532	DOMAIN	Ig-like 35.	might get lost (downstream of altered splice site)
3452	3454	STRAND		might get lost (downstream of altered splice site)
3459	3462	STRAND		might get lost (downstream of altered splice site)
3467	3475	STRAND		might get lost (downstream of altered splice site)
3471	3471	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3480	3483	STRAND		might get lost (downstream of altered splice site)
3490	3509	STRAND		might get lost (downstream of altered splice site)
3512	3514	TURN		might get lost (downstream of altered splice site)
3516	3522	STRAND		might get lost (downstream of altered splice site)
3520	3520	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3525	3534	STRAND		might get lost (downstream of altered splice site)
3537	3620	DOMAIN	Ig-like 36.	might get lost (downstream of altered splice site)
3554	3560	STRAND		might get lost (downstream of altered splice site)
3559	3559	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3562	3564	STRAND		might get lost (downstream of altered splice site)
3568	3570	STRAND		might get lost (downstream of altered splice site)
3579	3584	STRAND		might get lost (downstream of altered splice site)
3590	3597	STRAND		might get lost (downstream of altered splice site)
3600	3602	TURN		might get lost (downstream of altered splice site)
3604	3606	STRAND		might get lost (downstream of altered splice site)
3608	3608	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3608	3612	STRAND		might get lost (downstream of altered splice site)
3617	3620	STRAND		might get lost (downstream of altered splice site)
3625	3708	DOMAIN	Ig-like 37.	might get lost (downstream of altered splice site)
3628	3630	STRAND		might get lost (downstream of altered splice site)
3643	3651	STRAND		might get lost (downstream of altered splice site)
3647	3647	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3656	3663	STRAND		might get lost (downstream of altered splice site)
3667	3675	STRAND		might get lost (downstream of altered splice site)
3678	3683	STRAND		might get lost (downstream of altered splice site)
3692	3698	STRAND		might get lost (downstream of altered splice site)
3696	3696	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3701	3709	STRAND		might get lost (downstream of altered splice site)
3713	3796	DOMAIN	Ig-like 38.	might get lost (downstream of altered splice site)
3716	3718	STRAND		might get lost (downstream of altered splice site)
3723	3726	STRAND		might get lost (downstream of altered splice site)
3731	3739	STRAND		might get lost (downstream of altered splice site)
3735	3735	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3744	3751	STRAND		might get lost (downstream of altered splice site)
3754	3757	STRAND		might get lost (downstream of altered splice site)
3759	3763	STRAND		might get lost (downstream of altered splice site)
3766	3773	STRAND		might get lost (downstream of altered splice site)
3776	3778	TURN		might get lost (downstream of altered splice site)
3780	3788	STRAND		might get lost (downstream of altered splice site)
3784	3784	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3790	3798	STRAND		might get lost (downstream of altered splice site)
3801	3884	DOMAIN	Ig-like 39.	might get lost (downstream of altered splice site)
3812	3814	STRAND		might get lost (downstream of altered splice site)
3819	3828	STRAND		might get lost (downstream of altered splice site)
3823	3823	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3832	3839	STRAND		might get lost (downstream of altered splice site)
3842	3845	STRAND		might get lost (downstream of altered splice site)
3847	3851	STRAND		might get lost (downstream of altered splice site)
3854	3861	STRAND		might get lost (downstream of altered splice site)
3864	3866	TURN		might get lost (downstream of altered splice site)
3868	3874	STRAND		might get lost (downstream of altered splice site)
3872	3872	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3877	3882	STRAND		might get lost (downstream of altered splice site)
3884	3886	STRAND		might get lost (downstream of altered splice site)
3890	3973	DOMAIN	Ig-like 40.	might get lost (downstream of altered splice site)
3911	3911	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3961	3961	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3978	4062	DOMAIN	Ig-like 41.	might get lost (downstream of altered splice site)
4000	4000	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4050	4050	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4068	4160	DOMAIN	Ig-like 42.	might get lost (downstream of altered splice site)
4089	4089	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4141	4141	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4155	4155	CONFLICT	T -> TG (in Ref. 3; CAC85752).	might get lost (downstream of altered splice site)
4171	4239	DOMAIN	Ig-like 43.	might get lost (downstream of altered splice site)
4248	4337	DOMAIN	Ig-like 44.	might get lost (downstream of altered splice site)
4340	4427	DOMAIN	Ig-like 45.	might get lost (downstream of altered splice site)
4398	4401	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
4430	4518	DOMAIN	Ig-like 46.	might get lost (downstream of altered splice site)
4453	4453	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4489	4489	CONFLICT	H -> Q (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
4508	4508	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4523	4614	DOMAIN	Fibronectin type-III 3.	might get lost (downstream of altered splice site)
4624	4714	DOMAIN	Ig-like 47.	might get lost (downstream of altered splice site)
4846	4849	COMPBIAS	Poly-Gln.	might get lost (downstream of altered splice site)
4872	4901	DOMAIN	IQ.	might get lost (downstream of altered splice site)
4898	4989	DOMAIN	Ig-like 48.	might get lost (downstream of altered splice site)
4919	4919	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4959	4959	CONFLICT	T -> A (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
4971	4971	DISULFID	By similarity.	might get lost (downstream of altered splice site)
5126	5215	DOMAIN	Ig-like 49.	might get lost (downstream of altered splice site)
5147	5147	DISULFID	By similarity.	might get lost (downstream of altered splice site)
5199	5199	DISULFID	By similarity.	might get lost (downstream of altered splice site)
5243	5243	CONFLICT	S -> ST (in Ref. 1; CAC85753).	might get lost (downstream of altered splice site)
5260	5349	DOMAIN	Ig-like 50.	might get lost (downstream of altered splice site)
5371	5467	DOMAIN	Ig-like 51.	might get lost (downstream of altered splice site)
5391	5391	CONFLICT	S -> F (in Ref. 4; BAB13465).	might get lost (downstream of altered splice site)
5499	5500	CONFLICT	LE -> FQ (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
5601	5668	DOMAIN	SH3.	might get lost (downstream of altered splice site)
5604	5609	STRAND		might get lost (downstream of altered splice site)
5628	5636	STRAND		might get lost (downstream of altered splice site)
5639	5644	STRAND		might get lost (downstream of altered splice site)
5654	5657	STRAND		might get lost (downstream of altered splice site)
5659	5661	HELIX		might get lost (downstream of altered splice site)
5662	5665	STRAND		might get lost (downstream of altered splice site)
5693	5877	DOMAIN	DH.	might get lost (downstream of altered splice site)
5895	6004	DOMAIN	PH.	might get lost (downstream of altered splice site)
6014	6097	DOMAIN	Ig-like 52.	might get lost (downstream of altered splice site)
6035	6035	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6038	6038	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
6040	6040	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
6087	6087	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6108	6200	DOMAIN	Ig-like 53.	might get lost (downstream of altered splice site)
6115	6115	CONFLICT	R -> L (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
6129	6129	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6182	6182	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6357	6445	DOMAIN	Ig-like 54.	might get lost (downstream of altered splice site)
6468	6721	DOMAIN	Protein kinase 1.	might get lost (downstream of altered splice site)
6474	6482	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
6497	6497	BINDING	ATP (By similarity).	might get lost (downstream of altered splice site)
6570	6570	CONFLICT	Q -> E (in Ref. 3; CAJ76912).	might get lost (downstream of altered splice site)
6587	6587	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
6710	6711	CONFLICT	PS -> SG (in Ref. 3; CAJ76912).	might get lost (downstream of altered splice site)
6789	6796	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
6969	7117	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
7463	7552	DOMAIN	Ig-like 55.	might get lost (downstream of altered splice site)
7484	7484	DISULFID	By similarity.	might get lost (downstream of altered splice site)
7536	7536	DISULFID	By similarity.	might get lost (downstream of altered splice site)
7557	7644	DOMAIN	Fibronectin type-III 4.	might get lost (downstream of altered splice site)
7671	7671	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
7672	7924	DOMAIN	Protein kinase 2.	might get lost (downstream of altered splice site)
7678	7686	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
7701	7701	BINDING	ATP (By similarity).	might get lost (downstream of altered splice site)
7791	7791	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

11220 / 11220

position (AA) of stopcodon in wt / mu AA sequence

3740 / 3740

position of stopcodon in wt / mu cDNA

19907 / 19907

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

8688 / 8688

chromosome

strand

last intron/exon boundary

18749

theoretical NMD boundary in CDS

10011

length of CDS

11220

coding sequence (CDS) position

3472

cDNA position
(for ins/del: last normal base / first normal base)

12159

gDNA position
(for ins/del: last normal base / first normal base)

98960

chromosomal position
(for ins/del: last normal base / first normal base)

228494790

original gDNA sequence snippet

CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG

altered gDNA sequence snippet

CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG

original cDNA sequence snippet

CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG

altered cDNA sequence snippet

CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG

wildtype AA sequence

MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRAPQPV FREPLQSLQA
EEGSTATLQC ELSEPTATVV WSKGGLQLQA NGRREPRLQG CTAELVLQDL QREDTGEYTC
TCGSQATSAT LTVTAAPVRF LRELQHQEVD EGGTAHLCCE LSRAGASVEW RKGSLQLFPC
AKYQMVQDGA AAELLVRGVE QEDAGDYTCD TGHTQSMASL SVRVPRPKFK TRLQSLEQET
GDIARLCCQL SDAESGAVVQ WLKEGVELHA GPKYEMRSQG ATRELLIHQL EAKDTGEYAC
VTGGQKTAAS LRVTEPEVTI VRGLVDAEVT ADEDVEFSCE VSRAGATGVQ WCLQGLPLQS
NEVTEVAVRD GRIHTLRLKG VTPEDAGTVS FHLGNHASSA QLTVRAPEVT ILEPLQDVQL
SEGQDASFQC RLSRASGQEA RWALGGVPLQ ANEMNDITVE QGTLHLLTLH KVTLEDAGTV
SFHVGTCSSE AQLKVTAKNT VVRGLENVEA LEGGEALFEC QLSQPEVAAH TWLLDDEPVH
TSENAEVVFF ENGLRHLLLL KNLRPQDSCR VTFLAGDMVT SAFLTVRGWR LEILEPLKNA
AVRAGAQACF TCTLSEAVPV GEASWYINGA AVQPDDSDWT VTADGSHHAL LLRSAQPHHA
GEVTFACRDA VASARLTVLG LPDPPEDAEV VARSSHTVTL SWAAPMSDGG GGLCGYRVEV
KEGATGQWRL CHELVPGPEC VVDGLAPGET YRFRVAAVGP VGAGEPVHLP QTVRLAEPPK
PVPPQPSAPE SRQVAAGEDV SLELEVVAEA GEVIWHKGME RIQPGGRFEV VSQGRQQMLV
IKGFTAEDQG EYHCGLAQGS ICPAAATFQV ALSPASVDEA PQPSLPPEAA QEGDLHLLWE
ALARKRRMSR EPTLDSISEL PEEDGRSQRL PQEAEEVAPD LSEGYSTADE LARTGDADLS
HTSSDDESRA GTPSLVTYLK KAGRPGTSPL ASKVGAPAAP SVKPQQQQEP LAAVRPPLGD
LSTKDLGDPS MDKAAVKIQA AFKGYKVRKE MKQQEGPMFS HTFGDTEAQV GDALRLECVV
ASKADVRARW LKDGVELTDG RHHHIDQLGD GTCSLLITGL DRADAGCYTC QVSNKFGQVT
HSACVVVSGS ESEAESSSGG ELDDAFRRAA RRLHRLFRTK SPAEVSDEEL FLSADEGPAE
PEEPADWQTY REDEHFICIR FEALTEARQA VTRFQEMFAT LGIGVEIKLV EQGPRRVEMC
ISKETPAPVV PPEPLPSLLT SDAAPVFLTE LQNQEVQDGY PVSFDCVVTG QPMPSVRWFK
DGKLLEEDDH YMINEDQQGG HQLIITAVVP ADMGVYRCLA ENSMGVSSTK AELRVDLTST
DYDTAADATE SSSYFSAQGY LSSREQEGTE STTDEGQLPQ VVEELRDLQV APGTRLAKFQ
LKVKGYPAPR LYWFKDGQPL TASAHIRMTD KKILHTLEII SVTREDSGQY AAYISNAMGA
AYSSARLLVR GPDEPEEKPA SDVHEQLVPP RMLERFTPKK VKKGSSITFS VKVEGRPVPT
VHWLREEAER GVLWIGPDTP GYTVASSAQQ HSLVLLDVGR QHQGTYTCIA SNAAGQALCS
ASLHVSGLPK VEEQEKVKEA LISTFLQGTT QAISAQGLET ASFADLGGQR KEEPLAAKEA
LGHLSLAEVG TEEFLQKLTS QITEMVSAKI TQAKLQVPGG DSDEDSKTPS ASPRHGRSRP
SSSIQESSSE SEDGDARGEI FDIYVVTADY LPLGAEQDAI TLREGQYVEV LDAAHPLRWL
VRTKPTKSSP SRQGWVSPAY LDRRLKLSPE WGAAEAPEFP GEAVSEDEYK ARLSSVIQEL
LSSEQAFVEE LQFLQSHHLQ HLERCPHVPI AVAGQKAVIF RNVRDIGRFH SSFLQELQQC
DTDDDVAMCF IKNQAAFEQY LEFLVGRVQA ESVVVSTAIQ EFYKKYAEEA LLAGDPSQPP
PPPLQHYLEQ PVERVQRYQA LLKELIRNKA RNRQNCALLE QAYAVVSALP QRAENKLHVS
LMENYPGTLQ ALGEPIRQGH FIVWEGAPGA RMPWKGHNRH VFLFRNHLVI CKPRRDSRTD
TVSYVFRNMM KLSSIDLNDQ VEGDDRAFEV WQEREDSVRK YLLQARTAII KSSWVKEICG
IQQRLALPVW RPPDFEEELA DCTAELGETV KLACRVTGTP KPVISWYKDG KAVQVDPHHI
LIEDPDGSCA LILDSLTGVD SGQYMCFAAS AAGNCSTLGK ILVQVPPRFV NKVRASPFVE
GEDAQFTCTI EGAPYPQIRW YKDGALLTTG NKFQTLSEPR SGLLVLVIRA ASKEDLGLYE
CELVNRLGSA RASAELRIQS PMLQAQEQCH REQLVAAVEV TEQETKVPKK TVIIEETITT
VVKSPRGQRR SPSKSPSRSP SRCSASPLRP GLLAPDLLYL PGAGQPRRPE AEPGQKPVVP
TLYVTEAEAH SPALPGLSGP QPKWVEVEET IEVRVKKMGP QGVSPTTEVP RSSSGHLFTL
PGATPGGDPN SNNSNNKLLA QEAWAQGTAM VGVREPLVFR VDARGSVDWA ASGMGSLEEE
GTMEEAGEEE GEDGDAFVTE ESQDTHSLGD RDPKILTHNG RMLTLADLED YVPGEGETFH
CGGPGPGAPD DPPCEVSVIQ REIGEPTVGQ PVLLSVGHAL GPRGPLGLFR PEPRGASPPG
PQVRSLEGTS FLLREAPARP VGSAPWTQSF CTRIRRSADS GQSSFTTELS TQTVNFGTVG
ETVTLHICPD RDGDEAAQP*

mutated AA sequence

MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRAPQPV FREPLQSLQA
EEGSTATLQC ELSEPTATVV WSKGGLQLQA NGRREPRLQG CTAELVLQDL QREDTGEYTC
TCGSQATSAT LTVTAAPVRF LRELQHQEVD EGGTAHLCCE LSRAGASVEW RKGSLQLFPC
AKYQMVQDGA AAELLVRRVE QEDAGDYTCD TGHTQSMASL SVRVPRPKFK TRLQSLEQET
GDIARLCCQL SDAESGAVVQ WLKEGVELHA GPKYEMRSQG ATRELLIHQL EAKDTGEYAC
VTGGQKTAAS LRVTEPEVTI VRGLVDAEVT ADEDVEFSCE VSRAGATGVQ WCLQGLPLQS
NEVTEVAVRD GRIHTLRLKG VTPEDAGTVS FHLGNHASSA QLTVRAPEVT ILEPLQDVQL
SEGQDASFQC RLSRASGQEA RWALGGVPLQ ANEMNDITVE QGTLHLLTLH KVTLEDAGTV
SFHVGTCSSE AQLKVTAKNT VVRGLENVEA LEGGEALFEC QLSQPEVAAH TWLLDDEPVH
TSENAEVVFF ENGLRHLLLL KNLRPQDSCR VTFLAGDMVT SAFLTVRGWR LEILEPLKNA
AVRAGAQACF TCTLSEAVPV GEASWYINGA AVQPDDSDWT VTADGSHHAL LLRSAQPHHA
GEVTFACRDA VASARLTVLG LPDPPEDAEV VARSSHTVTL SWAAPMSDGG GGLCGYRVEV
KEGATGQWRL CHELVPGPEC VVDGLAPGET YRFRVAAVGP VGAGEPVHLP QTVRLAEPPK
PVPPQPSAPE SRQVAAGEDV SLELEVVAEA GEVIWHKGME RIQPGGRFEV VSQGRQQMLV
IKGFTAEDQG EYHCGLAQGS ICPAAATFQV ALSPASVDEA PQPSLPPEAA QEGDLHLLWE
ALARKRRMSR EPTLDSISEL PEEDGRSQRL PQEAEEVAPD LSEGYSTADE LARTGDADLS
HTSSDDESRA GTPSLVTYLK KAGRPGTSPL ASKVGAPAAP SVKPQQQQEP LAAVRPPLGD
LSTKDLGDPS MDKAAVKIQA AFKGYKVRKE MKQQEGPMFS HTFGDTEAQV GDALRLECVV
ASKADVRARW LKDGVELTDG RHHHIDQLGD GTCSLLITGL DRADAGCYTC QVSNKFGQVT
HSACVVVSGS ESEAESSSGG ELDDAFRRAA RRLHRLFRTK SPAEVSDEEL FLSADEGPAE
PEEPADWQTY REDEHFICIR FEALTEARQA VTRFQEMFAT LGIGVEIKLV EQGPRRVEMC
ISKETPAPVV PPEPLPSLLT SDAAPVFLTE LQNQEVQDGY PVSFDCVVTG QPMPSVRWFK
DGKLLEEDDH YMINEDQQGG HQLIITAVVP ADMGVYRCLA ENSMGVSSTK AELRVDLTST
DYDTAADATE SSSYFSAQGY LSSREQEGTE STTDEGQLPQ VVEELRDLQV APGTRLAKFQ
LKVKGYPAPR LYWFKDGQPL TASAHIRMTD KKILHTLEII SVTREDSGQY AAYISNAMGA
AYSSARLLVR GPDEPEEKPA SDVHEQLVPP RMLERFTPKK VKKGSSITFS VKVEGRPVPT
VHWLREEAER GVLWIGPDTP GYTVASSAQQ HSLVLLDVGR QHQGTYTCIA SNAAGQALCS
ASLHVSGLPK VEEQEKVKEA LISTFLQGTT QAISAQGLET ASFADLGGQR KEEPLAAKEA
LGHLSLAEVG TEEFLQKLTS QITEMVSAKI TQAKLQVPGG DSDEDSKTPS ASPRHGRSRP
SSSIQESSSE SEDGDARGEI FDIYVVTADY LPLGAEQDAI TLREGQYVEV LDAAHPLRWL
VRTKPTKSSP SRQGWVSPAY LDRRLKLSPE WGAAEAPEFP GEAVSEDEYK ARLSSVIQEL
LSSEQAFVEE LQFLQSHHLQ HLERCPHVPI AVAGQKAVIF RNVRDIGRFH SSFLQELQQC
DTDDDVAMCF IKNQAAFEQY LEFLVGRVQA ESVVVSTAIQ EFYKKYAEEA LLAGDPSQPP
PPPLQHYLEQ PVERVQRYQA LLKELIRNKA RNRQNCALLE QAYAVVSALP QRAENKLHVS
LMENYPGTLQ ALGEPIRQGH FIVWEGAPGA RMPWKGHNRH VFLFRNHLVI CKPRRDSRTD
TVSYVFRNMM KLSSIDLNDQ VEGDDRAFEV WQEREDSVRK YLLQARTAII KSSWVKEICG
IQQRLALPVW RPPDFEEELA DCTAELGETV KLACRVTGTP KPVISWYKDG KAVQVDPHHI
LIEDPDGSCA LILDSLTGVD SGQYMCFAAS AAGNCSTLGK ILVQVPPRFV NKVRASPFVE
GEDAQFTCTI EGAPYPQIRW YKDGALLTTG NKFQTLSEPR SGLLVLVIRA ASKEDLGLYE
CELVNRLGSA RASAELRIQS PMLQAQEQCH REQLVAAVEV TEQETKVPKK TVIIEETITT
VVKSPRGQRR SPSKSPSRSP SRCSASPLRP GLLAPDLLYL PGAGQPRRPE AEPGQKPVVP
TLYVTEAEAH SPALPGLSGP QPKWVEVEET IEVRVKKMGP QGVSPTTEVP RSSSGHLFTL
PGATPGGDPN SNNSNNKLLA QEAWAQGTAM VGVREPLVFR VDARGSVDWA ASGMGSLEEE
GTMEEAGEEE GEDGDAFVTE ESQDTHSLGD RDPKILTHNG RMLTLADLED YVPGEGETFH
CGGPGPGAPD DPPCEVSVIQ REIGEPTVGQ PVLLSVGHAL GPRGPLGLFR PEPRGASPPG
PQVRSLEGTS FLLREAPARP VGSAPWTQSF CTRIRRSADS GQSSFTTELS TQTVNFGTVG
ETVTLHICPD RDGDEAAQP*

speed

0.76 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project