mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.902469903641681 (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)

chr8:114186003T>CN/A show variant in all transcripts IGV

HGNC symbol

CSMD3

Ensembl transcript ID

ENST00000343508

Genbank transcript ID

NM_198124

UniProt peptide

Q7Z407

alteration type

single base exchange

alteration region

CDS

DNA changes

c.537A>G
cDNA.708A>G
g.263326A>G

AA changes

I179M Score: 10 explain score(s)

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

179

frameshift

known variant

Reference ID: rs2219898

database	homozygous (C/C)	heterozygous	allele carriers
1000G	609	1116	1725
ExAC	9723	13321	23044

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.92	1
	0.059	0.996
(flanking)	3.262	1

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
Acc increased	263325	wt: 0.24 / mu: 0.46	wt: CCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAG mu: CCACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAG	gcat\|AGCC
Donor increased	263330	wt: 0.31 / mu: 0.42	wt: TAGCCAATTCAGTTA mu: TGGCCAATTCAGTTA	GCCA\|attc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all identical

ENSPTRG00000020517

219

Mmulatta

all identical

ENSMMUG00000007342

219

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022311

219

Ggallus

no alignment

ENSGALG00000016111

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000025787

n/a

protein features

start (aa)	end (aa)	feature	details
64	3630	TOPO_DOM	Extracellular (Potential).	lost
176	237	DOMAIN	Sushi 1.	lost
204	204	DISULFID	By similarity.	might get lost (downstream of altered splice site)
218	218	DISULFID	By similarity.	might get lost (downstream of altered splice site)
235	235	DISULFID	By similarity.	might get lost (downstream of altered splice site)
241	241	DISULFID	By similarity.	might get lost (downstream of altered splice site)
241	345	DOMAIN	CUB 2.	might get lost (downstream of altered splice site)
267	267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
409	409	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
484	545	DOMAIN	Sushi 2.	might get lost (downstream of altered splice site)
486	486	DISULFID	By similarity.	might get lost (downstream of altered splice site)
510	510	CONFLICT	F -> L (in Ref. 1; AAO34702).	might get lost (downstream of altered splice site)
512	512	DISULFID	By similarity.	might get lost (downstream of altered splice site)
526	526	DISULFID	By similarity.	might get lost (downstream of altered splice site)
543	543	DISULFID	By similarity.	might get lost (downstream of altered splice site)
548	548	DISULFID	By similarity.	might get lost (downstream of altered splice site)
548	659	DOMAIN	CUB 3.	might get lost (downstream of altered splice site)
574	574	DISULFID	By similarity.	might get lost (downstream of altered splice site)
662	719	DOMAIN	Sushi 3.	might get lost (downstream of altered splice site)
664	664	DISULFID	By similarity.	might get lost (downstream of altered splice site)
690	690	DISULFID	By similarity.	might get lost (downstream of altered splice site)
704	704	DISULFID	By similarity.	might get lost (downstream of altered splice site)
717	717	DISULFID	By similarity.	might get lost (downstream of altered splice site)
721	721	DISULFID	By similarity.	might get lost (downstream of altered splice site)
721	829	DOMAIN	CUB 4.	might get lost (downstream of altered splice site)
724	724	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
726	726	CONFLICT	T -> A (in Ref. 1; AAO34702).	might get lost (downstream of altered splice site)
747	747	DISULFID	By similarity.	might get lost (downstream of altered splice site)
823	823	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
832	893	DOMAIN	Sushi 4.	might get lost (downstream of altered splice site)
834	834	DISULFID	By similarity.	might get lost (downstream of altered splice site)
860	860	DISULFID	By similarity.	might get lost (downstream of altered splice site)
875	875	DISULFID	By similarity.	might get lost (downstream of altered splice site)
891	891	DISULFID	By similarity.	might get lost (downstream of altered splice site)
895	895	DISULFID	By similarity.	might get lost (downstream of altered splice site)
895	1003	DOMAIN	CUB 5.	might get lost (downstream of altered splice site)
921	921	DISULFID	By similarity.	might get lost (downstream of altered splice site)
966	966	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
977	977	CONFLICT	S -> I (in Ref. 3; BAB67787).	might get lost (downstream of altered splice site)
1008	1065	DOMAIN	Sushi 5.	might get lost (downstream of altered splice site)
1010	1010	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1036	1036	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1050	1050	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1063	1063	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1067	1067	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1067	1177	DOMAIN	CUB 6.	might get lost (downstream of altered splice site)
1092	1092	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1093	1093	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1126	1126	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1171	1171	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1180	1239	DOMAIN	Sushi 6.	might get lost (downstream of altered splice site)
1182	1182	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1208	1208	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1222	1222	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1237	1237	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1241	1241	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1241	1349	DOMAIN	CUB 7.	might get lost (downstream of altered splice site)
1267	1267	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1280	1280	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1352	1412	DOMAIN	Sushi 7.	might get lost (downstream of altered splice site)
1354	1354	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1381	1381	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1395	1395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1410	1410	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1414	1414	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1414	1523	DOMAIN	CUB 8.	might get lost (downstream of altered splice site)
1441	1441	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1526	1586	DOMAIN	Sushi 8.	might get lost (downstream of altered splice site)
1528	1528	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1536	1536	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1554	1554	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1568	1568	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1584	1584	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1588	1588	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1588	1696	DOMAIN	CUB 9.	might get lost (downstream of altered splice site)
1591	1591	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1614	1614	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1699	1760	DOMAIN	Sushi 9.	might get lost (downstream of altered splice site)
1701	1701	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1709	1709	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1727	1727	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1741	1741	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1758	1758	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1762	1762	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1762	1870	DOMAIN	CUB 10.	might get lost (downstream of altered splice site)
1781	1781	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1788	1788	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1876	1937	DOMAIN	Sushi 10.	might get lost (downstream of altered splice site)
1878	1878	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1904	1904	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1918	1918	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1929	1929	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1935	1935	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1939	1939	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1939	2047	DOMAIN	CUB 11.	might get lost (downstream of altered splice site)
1965	1965	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2019	2019	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2050	2109	DOMAIN	Sushi 11.	might get lost (downstream of altered splice site)
2052	2052	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2078	2078	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2092	2092	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2104	2104	CONFLICT	I -> T (in Ref. 1; AAO34702).	might get lost (downstream of altered splice site)
2107	2107	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2111	2111	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2111	2219	DOMAIN	CUB 12.	might get lost (downstream of altered splice site)
2137	2137	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2155	2155	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2222	2281	DOMAIN	Sushi 12.	might get lost (downstream of altered splice site)
2224	2224	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2250	2250	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2264	2264	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2279	2279	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2283	2283	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2283	2394	DOMAIN	CUB 13.	might get lost (downstream of altered splice site)
2286	2286	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2291	2291	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2309	2309	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2324	2324	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2393	2454	DOMAIN	Sushi 13.	might get lost (downstream of altered splice site)
2395	2395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2423	2423	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2437	2437	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2452	2452	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2456	2456	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2456	2567	DOMAIN	CUB 14.	might get lost (downstream of altered splice site)
2484	2484	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2495	2495	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2537	2537	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2567	2629	DOMAIN	Sushi 14.	might get lost (downstream of altered splice site)
2569	2569	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2596	2596	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2610	2610	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2627	2627	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2630	2691	DOMAIN	Sushi 15.	might get lost (downstream of altered splice site)
2632	2632	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2658	2658	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2674	2674	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2689	2689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2692	2756	DOMAIN	Sushi 16.	might get lost (downstream of altered splice site)
2694	2694	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2711	2711	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2725	2725	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2739	2739	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2742	2742	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2754	2754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2757	2814	DOMAIN	Sushi 17.	might get lost (downstream of altered splice site)
2759	2759	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2785	2785	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2799	2799	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2812	2812	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2815	2872	DOMAIN	Sushi 18.	might get lost (downstream of altered splice site)
2817	2817	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2843	2843	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2857	2857	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2862	2862	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2870	2870	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2873	2930	DOMAIN	Sushi 19.	might get lost (downstream of altered splice site)
2875	2875	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2901	2901	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2915	2915	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2928	2928	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2931	2992	DOMAIN	Sushi 20.	might get lost (downstream of altered splice site)
2932	2932	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2933	2933	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2952	2952	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2963	2963	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2977	2977	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2990	2990	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2993	3050	DOMAIN	Sushi 21.	might get lost (downstream of altered splice site)
2995	2995	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3021	3021	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3035	3035	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3048	3048	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3054	3111	DOMAIN	Sushi 22.	might get lost (downstream of altered splice site)
3056	3056	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3082	3082	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3096	3096	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3099	3099	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3109	3109	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3112	3170	DOMAIN	Sushi 23.	might get lost (downstream of altered splice site)
3114	3114	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3141	3141	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3155	3155	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3158	3158	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3167	3167	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3168	3168	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3171	3230	DOMAIN	Sushi 24.	might get lost (downstream of altered splice site)
3173	3173	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3194	3194	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3199	3199	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3208	3208	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3215	3215	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3218	3218	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3228	3228	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3231	3288	DOMAIN	Sushi 25.	might get lost (downstream of altered splice site)
3233	3233	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3259	3259	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3273	3273	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3276	3276	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3286	3286	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3289	3346	DOMAIN	Sushi 26.	might get lost (downstream of altered splice site)
3291	3291	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3317	3317	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3331	3331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3344	3344	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3350	3408	DOMAIN	Sushi 27.	might get lost (downstream of altered splice site)
3352	3352	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3364	3364	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3379	3379	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3393	3393	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3406	3406	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3409	3468	DOMAIN	Sushi 28.	might get lost (downstream of altered splice site)
3411	3411	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3438	3438	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3453	3453	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3466	3466	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3522	3522	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3529	3529	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3612	3612	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3618	3618	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3627	3627	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3631	3651	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
3652	3707	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

11004 / 11004

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

3668 / 3668

position of stopcodon in wt / mu cDNA

11175 / 11175

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

172 / 172

chromosome

strand

-1

last intron/exon boundary

11016

theoretical NMD boundary in CDS

10794

length of CDS

11004

coding sequence (CDS) position

537

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

708

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

263326

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

114186003

original gDNA sequence snippet

CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC

altered gDNA sequence snippet

CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC

original cDNA sequence snippet

CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC

altered cDNA sequence snippet

CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC

wildtype AA sequence

MWSWFLCWKP VQLDRQTASG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA
VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA
NSVNTASWDF PVPICRAEDA CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS
LIFTDFQMEE KYDYLEIEGS EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA
PYQGSSTLTH TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK
LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG
AKSITCQRIA EVFAAWSDHR PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA
VNTNKVIQIN FEEFDLEIGY DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH
LQTDESVGSV GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH
LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR
GFNITYNTFG HNECPDPGIP INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG
KVMWSGLIPK CGAPCGGHFS APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF
QTELNYDVLE VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL
PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY
LLITENGSFT QPLARLTGSD LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE
PCEDPGIPQY GSRIGFNFGI GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE
CGASATNNEG ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP
QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG
ESSGRILSPG YPFPYDNNLR CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM
LLKEISGSLI PEGIHSTLNI VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN
GDGREPGDTV VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD
SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG
STVTYYCDAG YVLQGYSTLT CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK
NYSVGHNCVY SIAVPKEFVV FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL
PLSSGNQITI RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD
NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS
TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ
GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT
INLPIGFGVH LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS
ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG
IYINFTVLQT EPIYDFITVW DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS
GFFVLSYHAY QLRVCQPPPP VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG
ERLQMDGAPP VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF
RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW
DAPVPACQAI SCGIPKAPTN GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW
SNHNKTPRCV VVTCPSINSF ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL
PNGTWSWRNE RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD
HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ
WSHPPPMCKV VNCSDPGIPA NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN
GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH
WSGSQPHCSG DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT
WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT
WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS
GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS
SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT
GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS
FNASTGRVNA TLSNSNMELL LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF
VSAEPDGATY VFQGFIQGKD YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF
ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL
NTVCTMV*

mutated AA sequence

MWSWFLCWKP VQLDRQTASG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA
VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCMA
NSVNTASWDF PVPICRAEDA CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS
LIFTDFQMEE KYDYLEIEGS EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA
PYQGSSTLTH TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK
LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG
AKSITCQRIA EVFAAWSDHR PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA
VNTNKVIQIN FEEFDLEIGY DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH
LQTDESVGSV GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH
LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR
GFNITYNTFG HNECPDPGIP INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG
KVMWSGLIPK CGAPCGGHFS APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF
QTELNYDVLE VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL
PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY
LLITENGSFT QPLARLTGSD LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE
PCEDPGIPQY GSRIGFNFGI GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE
CGASATNNEG ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP
QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG
ESSGRILSPG YPFPYDNNLR CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM
LLKEISGSLI PEGIHSTLNI VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN
GDGREPGDTV VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD
SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG
STVTYYCDAG YVLQGYSTLT CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK
NYSVGHNCVY SIAVPKEFVV FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL
PLSSGNQITI RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD
NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS
TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ
GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT
INLPIGFGVH LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS
ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG
IYINFTVLQT EPIYDFITVW DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS
GFFVLSYHAY QLRVCQPPPP VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG
ERLQMDGAPP VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF
RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW
DAPVPACQAI SCGIPKAPTN GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW
SNHNKTPRCV VVTCPSINSF ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL
PNGTWSWRNE RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD
HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ
WSHPPPMCKV VNCSDPGIPA NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN
GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH
WSGSQPHCSG DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT
WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT
WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS
GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS
SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT
GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS
FNASTGRVNA TLSNSNMELL LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF
VSAEPDGATY VFQGFIQGKD YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF
ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL
NTVCTMV*

speed

1.00 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