MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000368654
Querying Taster for transcript #2: ENST00000368653
MT speed 0 s - this script 3.197842 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MKI67	polymorphism_automatic	2.56017429478561e-13	simple_aae		affected		N104S	single base exchange	rs2071498		show file
MKI67	polymorphism_automatic	2.01605399041682e-12	simple_aae		affected		N104S	single base exchange	rs2071498		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999744 (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)

chr10:129917560T>CN/A show variant in all transcripts IGV

HGNC symbol

MKI67

Ensembl transcript ID

ENST00000368654

Genbank transcript ID

NM_002417

UniProt peptide

P46013

alteration type

single base exchange

alteration region

CDS

DNA changes

c.311A>G
cDNA.687A>G
g.7090A>G

AA changes

N104S Score: 46 explain score(s)

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

104

frameshift

known variant

Reference ID: rs2071498

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1012	1151	2163
ExAC	25539	-18311	7228

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.589	0.002
	1.97	0.004
(flanking)	-0.546	0.001

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 marginally increased	7094	wt: 0.9953 / mu: 0.9963 (marginal change - not scored)	wt: AATGGAAGGAAGTCA mu: AGTGGAAGGAAGTCA	TGGA\|agga
Donor gained	7089	0.37	mu: TTCAGAGTGGAAGGA	CAGA\|gtgg
Donor gained	7084	0.80	mu: AAGTCTTCAGAGTGG	GTCT\|tcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

104

mutated

all conserved

104

Ptroglodytes

all identical

ENSPTRG00000003055

104

Mmulatta

no alignment

ENSMMUG00000005390

n/a

Fcatus

all conserved

ENSFCAG00000009683

Mmusculus

all conserved

ENSMUSG00000031004

104

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000091150

104

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000005185

105

EQPQT

protein features

start (aa)	end (aa)	feature	details
108	108	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
109	109	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
125	125	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
128	128	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
131	131	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
264	264	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
308	308	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
328	328	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
347	347	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
352	352	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
357	357	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
374	374	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
401	401	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
411	411	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
538	538	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
543	543	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
579	579	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
584	584	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
619	626	CONFLICT	RKSGNLPS -> ERVATCLQ (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)
630	630	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
648	648	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
713	713	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
761	761	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
859	859	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1000	1112	REPEAT	1.	might get lost (downstream of altered splice site)
1000	2928	REGION	16 X 122 AA approximate repeats.	might get lost (downstream of altered splice site)
1017	1017	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1098	1098	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1111	1111	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1122	1234	REPEAT	2.	might get lost (downstream of altered splice site)
1131	1131	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1139	1139	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1176	1176	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1193	1193	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1207	1207	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1233	1233	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1237	1237	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1244	1356	REPEAT	3.	might get lost (downstream of altered splice site)
1253	1253	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1256	1256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1261	1261	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1298	1298	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1302	1302	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1315	1315	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1327	1327	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1329	1329	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1335	1335	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1355	1355	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1366	1477	REPEAT	4.	might get lost (downstream of altered splice site)
1375	1375	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1376	1376	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1383	1383	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1487	1598	REPEAT	5.	might get lost (downstream of altered splice site)
1503	1503	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1506	1506	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1540	1540	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1546	1546	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1552	1552	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1565	1565	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1569	1569	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1571	1571	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1608	1720	REPEAT	6.	might get lost (downstream of altered splice site)
1618	1618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1628	1628	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1629	1629	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1636	1636	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1639	1639	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
1679	1679	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1689	1689	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1719	1719	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1721	1721	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1726	1726	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1730	1842	REPEAT	7.	might get lost (downstream of altered splice site)
1740	1740	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1747	1747	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1764	1764	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1784	1784	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1801	1801	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1815	1815	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1841	1841	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1851	1964	REPEAT	8.	might get lost (downstream of altered splice site)
1861	1861	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1864	1864	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1869	1869	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1897	1897	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1923	1923	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1937	1937	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1974	2086	REPEAT	9.	might get lost (downstream of altered splice site)
1983	1983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2002	2002	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2005	2005	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2065	2065	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2085	2085	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2096	2204	REPEAT	10.	might get lost (downstream of altered splice site)
2105	2105	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2113	2113	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2135	2135	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2203	2203	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2205	2205	CONFLICT	I -> V (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)
2211	2211	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2214	2326	REPEAT	11.	might get lost (downstream of altered splice site)
2223	2223	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2231	2231	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2239	2239	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2264	2264	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2285	2285	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2299	2299	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2305	2305	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2325	2325	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2328	2328	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2332	2332	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2335	2447	REPEAT	12.	might get lost (downstream of altered splice site)
2344	2344	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2352	2352	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2355	2355	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2395	2395	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2406	2406	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2420	2420	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2426	2426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2446	2446	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2457	2569	REPEAT	13.	might get lost (downstream of altered splice site)
2466	2466	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2471	2471	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2505	2505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2508	2508	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2509	2509	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2528	2528	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2579	2689	REPEAT	14.	might get lost (downstream of altered splice site)
2588	2588	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2638	2638	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2699	2808	REPEAT	15.	might get lost (downstream of altered splice site)
2708	2708	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2818	2928	REPEAT	16.	might get lost (downstream of altered splice site)
2827	2827	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2828	2828	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2892	2893	CONFLICT	KL -> NV (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)
3034	3041	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
3041	3041	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3042	3042	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3082	3082	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3207	3207	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3213	3213	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
3216	3216	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3223	3223	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
3246	3246	CONFLICT	R -> T (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

9771 / 9771

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

3257 / 3257

position of stopcodon in wt / mu cDNA

10147 / 10147

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

377 / 377

chromosome

strand

-1

last intron/exon boundary

10082

theoretical NMD boundary in CDS

9655

length of CDS

9771

coding sequence (CDS) position

311

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

687

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

7090

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

129917560

original gDNA sequence snippet

TGAAAATGAAAGTCTTCAGAATGGAAGGAAGTCAACTGAAT

altered gDNA sequence snippet

TGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAAT

original cDNA sequence snippet

TGAAAATGAAAGTCTTCAGAATGGAAGGAAGTCAACTGAAT

altered cDNA sequence snippet

TGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAAT

wildtype AA sequence

MWPTRRLVTI KRSGVDGPHF PLSLSTCLFG RGIECDIRIQ LPVVSKQHCK IEIHEQEAIL
HNFSSTNPTQ VNGSVIDEPV RLKHGDVITI IDRSFRYENE SLQNGRKSTE FPRKIREQEP
ARRVSRSSFS SDPDEKAQDS KAYSKITEGK VSGNPQVHIK NVKEDSTADD SKDSVAQGTT
NVHSSEHAGR NGRNAADPIS GDFKEISSVK LVSRYGELKS VPTTQCLDNS KKNESPFWKL
YESVKKELDV KSQKENVLQY CRKSGLQTDY ATEKESADGL QGETQLLVSR KSRPKSGGSG
HAVAEPASPE QELDQNKGKG RDVESVQTPS KAVGASFPLY EPAKMKTPVQ YSQQQNSPQK
HKNKDLYTTG RRESVNLGKS EGFKAGDKTL TPRKLSTRNR TPAKVEDAAD SATKPENLSS
KTRGSIPTDV EVLPTETEIH NEPFLTLWLT QVERKIQKDS LSKPEKLGTT AGQMCSGLPG
LSSVDINNFG DSINESEGIP LKRRRVSFGG HLRPELFDEN LPPNTPLKRG EAPTKRKSLV
MHTPPVLKKI IKEQPQPSGK QESGSEIHVE VKAQSLVISP PAPSPRKTPV ASDQRRRSCK
TAPASSSKSQ TEVPKRGGRK SGNLPSKRVS ISRSQHDILQ MICSKRRSGA SEANLIVAKS
WADVVKLGAK QTQTKVIKHG PQRSMNKRQR RPATPKKPVG EVHSQFSTGH ANSPCTIIIG
KAHTEKVHVP ARPYRVLNNF ISNQKMDFKE DLSGIAEMFK TPVKEQPQLT STCHIAISNS
ENLLGKQFQG TDSGEEPLLP TSESFGGNVF FSAQNAAKQP SDKCSASPPL RRQCIRENGN
VAKTPRNTYK MTSLETKTSD TETEPSKTVS TANRSGRSTE FRNIQKLPVE SKSEETNTEI
VECILKRGQK ATLLQQRREG EMKEIERPFE TYKENIELKE NDEKMKAMKR SRTWGQKCAP
MSDLTDLKSL PDTELMKDTA RGQNLLQTQD HAKAPKSEKG KITKMPCQSL QPEPINTPTH
TKQQLKASLG KVGVKEELLA VGKFTRTSGE TTHTHREPAG DGKSIRTFKE SPKQILDPAA
RVTGMKKWPR TPKEEAQSLE DLAGFKELFQ TPGPSEESMT DEKTTKIACK SPPPESVDTP
TSTKQWPKRS LRKADVEEEF LALRKLTPSA GKAMLTPKPA GGDEKDIKAF MGTPVQKLDL
AGTLPGSKRQ LQTPKEKAQA LEDLAGFKEL FQTPGHTEEL VAAGKTTKIP CDSPQSDPVD
TPTSTKQRPK RSIRKADVEG ELLACRNLMP SAGKAMHTPK PSVGEEKDII IFVGTPVQKL
DLTENLTGSK RRPQTPKEEA QALEDLTGFK ELFQTPGHTE EAVAAGKTTK MPCESSPPES
ADTPTSTRRQ PKTPLEKRDV QKELSALKKL TQTSGETTHT DKVPGGEDKS INAFRETAKQ
KLDPAASVTG SKRHPKTKEK AQPLEDLAGL KELFQTPVCT DKPTTHEKTT KIACRSQPDP
VDTPTSSKPQ SKRSLRKVDV EEEFFALRKR TPSAGKAMHT PKPAVSGEKN IYAFMGTPVQ
KLDLTENLTG SKRRLQTPKE KAQALEDLAG FKELFQTRGH TEESMTNDKT AKVACKSSQP
DPDKNPASSK RRLKTSLGKV GVKEELLAVG KLTQTSGETT HTHTEPTGDG KSMKAFMESP
KQILDSAASL TGSKRQLRTP KGKSEVPEDL AGFIELFQTP SHTKESMTNE KTTKVSYRAS
QPDLVDTPTS SKPQPKRSLR KADTEEEFLA FRKQTPSAGK AMHTPKPAVG EEKDINTFLG
TPVQKLDQPG NLPGSNRRLQ TRKEKAQALE ELTGFRELFQ TPCTDNPTTD EKTTKKILCK
SPQSDPADTP TNTKQRPKRS LKKADVEEEF LAFRKLTPSA GKAMHTPKAA VGEEKDINTF
VGTPVEKLDL LGNLPGSKRR PQTPKEKAKA LEDLAGFKEL FQTPGHTEES MTDDKITEVS
CKSPQPDPVK TPTSSKQRLK ISLGKVGVKE EVLPVGKLTQ TSGKTTQTHR ETAGDGKSIK
AFKESAKQML DPANYGTGME RWPRTPKEEA QSLEDLAGFK ELFQTPDHTE ESTTDDKTTK
IACKSPPPES MDTPTSTRRR PKTPLGKRDI VEELSALKQL TQTTHTDKVP GDEDKGINVF
RETAKQKLDP AASVTGSKRQ PRTPKGKAQP LEDLAGLKEL FQTPICTDKP TTHEKTTKIA
CRSPQPDPVG TPTIFKPQSK RSLRKADVEE ESLALRKRTP SVGKAMDTPK PAGGDEKDMK
AFMGTPVQKL DLPGNLPGSK RWPQTPKEKA QALEDLAGFK ELFQTPGTDK PTTDEKTTKI
ACKSPQPDPV DTPASTKQRP KRNLRKADVE EEFLALRKRT PSAGKAMDTP KPAVSDEKNI
NTFVETPVQK LDLLGNLPGS KRQPQTPKEK AEALEDLVGF KELFQTPGHT EESMTDDKIT
EVSCKSPQPE SFKTSRSSKQ RLKIPLVKVD MKEEPLAVSK LTRTSGETTQ THTEPTGDSK
SIKAFKESPK QILDPAASVT GSRRQLRTRK EKARALEDLV DFKELFSAPG HTEESMTIDK
NTKIPCKSPP PELTDTATST KRCPKTRPRK EVKEELSAVE RLTQTSGQST HTHKEPASGD
EGIKVLKQRA KKKPNPVEEE PSRRRPRAPK EKAQPLEDLA GFTELSETSG HTQESLTAGK
ATKIPCESPP LEVVDTTAST KRHLRTRVQK VQVKEEPSAV KFTQTSGETT DADKEPAGED
KGIKALKESA KQTPAPAASV TGSRRRPRAP RESAQAIEDL AGFKDPAAGH TEESMTDDKT
TKIPCKSSPE LEDTATSSKR RPRTRAQKVE VKEELLAVGK LTQTSGETTH TDKEPVGEGK
GTKAFKQPAK RKLDAEDVIG SRRQPRAPKE KAQPLEDLAS FQELSQTPGH TEELANGAAD
SFTSAPKQTP DSGKPLKISR RVLRAPKVEP VGDVVSTRDP VKSQSKSNTS LPPLPFKRGG
GKDGSVTGTK RLRCMPAPEE IVEELPASKK QRVAPRARGK SSEPVVIMKR SLRTSAKRIE
PAEELNSNDM KTNKEEHKLQ DSVPENKGIS LRSRRQNKTE AEQQITEVFV LAERIEINRN
EKKPMKTSPE MDIQNPDDGA RKPIPRDKVT ENKRCLRSAR QNESSQPKVA EESGGQKSAK
VLMQNQKGKG EAGNSDSMCL RSRKTKSQPA ASTLESKSVQ RVTRSVKRCA ENPKKAEDNV
CVKKIRTRSH RDSEDI*

mutated AA sequence

MWPTRRLVTI KRSGVDGPHF PLSLSTCLFG RGIECDIRIQ LPVVSKQHCK IEIHEQEAIL
HNFSSTNPTQ VNGSVIDEPV RLKHGDVITI IDRSFRYENE SLQSGRKSTE FPRKIREQEP
ARRVSRSSFS SDPDEKAQDS KAYSKITEGK VSGNPQVHIK NVKEDSTADD SKDSVAQGTT
NVHSSEHAGR NGRNAADPIS GDFKEISSVK LVSRYGELKS VPTTQCLDNS KKNESPFWKL
YESVKKELDV KSQKENVLQY CRKSGLQTDY ATEKESADGL QGETQLLVSR KSRPKSGGSG
HAVAEPASPE QELDQNKGKG RDVESVQTPS KAVGASFPLY EPAKMKTPVQ YSQQQNSPQK
HKNKDLYTTG RRESVNLGKS EGFKAGDKTL TPRKLSTRNR TPAKVEDAAD SATKPENLSS
KTRGSIPTDV EVLPTETEIH NEPFLTLWLT QVERKIQKDS LSKPEKLGTT AGQMCSGLPG
LSSVDINNFG DSINESEGIP LKRRRVSFGG HLRPELFDEN LPPNTPLKRG EAPTKRKSLV
MHTPPVLKKI IKEQPQPSGK QESGSEIHVE VKAQSLVISP PAPSPRKTPV ASDQRRRSCK
TAPASSSKSQ TEVPKRGGRK SGNLPSKRVS ISRSQHDILQ MICSKRRSGA SEANLIVAKS
WADVVKLGAK QTQTKVIKHG PQRSMNKRQR RPATPKKPVG EVHSQFSTGH ANSPCTIIIG
KAHTEKVHVP ARPYRVLNNF ISNQKMDFKE DLSGIAEMFK TPVKEQPQLT STCHIAISNS
ENLLGKQFQG TDSGEEPLLP TSESFGGNVF FSAQNAAKQP SDKCSASPPL RRQCIRENGN
VAKTPRNTYK MTSLETKTSD TETEPSKTVS TANRSGRSTE FRNIQKLPVE SKSEETNTEI
VECILKRGQK ATLLQQRREG EMKEIERPFE TYKENIELKE NDEKMKAMKR SRTWGQKCAP
MSDLTDLKSL PDTELMKDTA RGQNLLQTQD HAKAPKSEKG KITKMPCQSL QPEPINTPTH
TKQQLKASLG KVGVKEELLA VGKFTRTSGE TTHTHREPAG DGKSIRTFKE SPKQILDPAA
RVTGMKKWPR TPKEEAQSLE DLAGFKELFQ TPGPSEESMT DEKTTKIACK SPPPESVDTP
TSTKQWPKRS LRKADVEEEF LALRKLTPSA GKAMLTPKPA GGDEKDIKAF MGTPVQKLDL
AGTLPGSKRQ LQTPKEKAQA LEDLAGFKEL FQTPGHTEEL VAAGKTTKIP CDSPQSDPVD
TPTSTKQRPK RSIRKADVEG ELLACRNLMP SAGKAMHTPK PSVGEEKDII IFVGTPVQKL
DLTENLTGSK RRPQTPKEEA QALEDLTGFK ELFQTPGHTE EAVAAGKTTK MPCESSPPES
ADTPTSTRRQ PKTPLEKRDV QKELSALKKL TQTSGETTHT DKVPGGEDKS INAFRETAKQ
KLDPAASVTG SKRHPKTKEK AQPLEDLAGL KELFQTPVCT DKPTTHEKTT KIACRSQPDP
VDTPTSSKPQ SKRSLRKVDV EEEFFALRKR TPSAGKAMHT PKPAVSGEKN IYAFMGTPVQ
KLDLTENLTG SKRRLQTPKE KAQALEDLAG FKELFQTRGH TEESMTNDKT AKVACKSSQP
DPDKNPASSK RRLKTSLGKV GVKEELLAVG KLTQTSGETT HTHTEPTGDG KSMKAFMESP
KQILDSAASL TGSKRQLRTP KGKSEVPEDL AGFIELFQTP SHTKESMTNE KTTKVSYRAS
QPDLVDTPTS SKPQPKRSLR KADTEEEFLA FRKQTPSAGK AMHTPKPAVG EEKDINTFLG
TPVQKLDQPG NLPGSNRRLQ TRKEKAQALE ELTGFRELFQ TPCTDNPTTD EKTTKKILCK
SPQSDPADTP TNTKQRPKRS LKKADVEEEF LAFRKLTPSA GKAMHTPKAA VGEEKDINTF
VGTPVEKLDL LGNLPGSKRR PQTPKEKAKA LEDLAGFKEL FQTPGHTEES MTDDKITEVS
CKSPQPDPVK TPTSSKQRLK ISLGKVGVKE EVLPVGKLTQ TSGKTTQTHR ETAGDGKSIK
AFKESAKQML DPANYGTGME RWPRTPKEEA QSLEDLAGFK ELFQTPDHTE ESTTDDKTTK
IACKSPPPES MDTPTSTRRR PKTPLGKRDI VEELSALKQL TQTTHTDKVP GDEDKGINVF
RETAKQKLDP AASVTGSKRQ PRTPKGKAQP LEDLAGLKEL FQTPICTDKP TTHEKTTKIA
CRSPQPDPVG TPTIFKPQSK RSLRKADVEE ESLALRKRTP SVGKAMDTPK PAGGDEKDMK
AFMGTPVQKL DLPGNLPGSK RWPQTPKEKA QALEDLAGFK ELFQTPGTDK PTTDEKTTKI
ACKSPQPDPV DTPASTKQRP KRNLRKADVE EEFLALRKRT PSAGKAMDTP KPAVSDEKNI
NTFVETPVQK LDLLGNLPGS KRQPQTPKEK AEALEDLVGF KELFQTPGHT EESMTDDKIT
EVSCKSPQPE SFKTSRSSKQ RLKIPLVKVD MKEEPLAVSK LTRTSGETTQ THTEPTGDSK
SIKAFKESPK QILDPAASVT GSRRQLRTRK EKARALEDLV DFKELFSAPG HTEESMTIDK
NTKIPCKSPP PELTDTATST KRCPKTRPRK EVKEELSAVE RLTQTSGQST HTHKEPASGD
EGIKVLKQRA KKKPNPVEEE PSRRRPRAPK EKAQPLEDLA GFTELSETSG HTQESLTAGK
ATKIPCESPP LEVVDTTAST KRHLRTRVQK VQVKEEPSAV KFTQTSGETT DADKEPAGED
KGIKALKESA KQTPAPAASV TGSRRRPRAP RESAQAIEDL AGFKDPAAGH TEESMTDDKT
TKIPCKSSPE LEDTATSSKR RPRTRAQKVE VKEELLAVGK LTQTSGETTH TDKEPVGEGK
GTKAFKQPAK RKLDAEDVIG SRRQPRAPKE KAQPLEDLAS FQELSQTPGH TEELANGAAD
SFTSAPKQTP DSGKPLKISR RVLRAPKVEP VGDVVSTRDP VKSQSKSNTS LPPLPFKRGG
GKDGSVTGTK RLRCMPAPEE IVEELPASKK QRVAPRARGK SSEPVVIMKR SLRTSAKRIE
PAEELNSNDM KTNKEEHKLQ DSVPENKGIS LRSRRQNKTE AEQQITEVFV LAERIEINRN
EKKPMKTSPE MDIQNPDDGA RKPIPRDKVT ENKRCLRSAR QNESSQPKVA EESGGQKSAK
VLMQNQKGKG EAGNSDSMCL RSRKTKSQPA ASTLESKSVQ RVTRSVKRCA ENPKKAEDNV
CVKKIRTRSH RDSEDI*

speed

0.54 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
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997984 (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)

chr10:129917560T>CN/A show variant in all transcripts IGV

HGNC symbol

MKI67

Ensembl transcript ID

ENST00000368653

Genbank transcript ID

NM_001145966

UniProt peptide

P46013

alteration type

single base exchange

alteration region

CDS

DNA changes

c.311A>G
cDNA.506A>G
g.7090A>G

AA changes

N104S Score: 46 explain score(s)

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

104

frameshift

known variant

Reference ID: rs2071498

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1012	1151	2163
ExAC	25539	-18311	7228

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.589	0.002
	1.97	0.004
(flanking)	-0.546	0.001

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 marginally increased	7094	wt: 0.9953 / mu: 0.9963 (marginal change - not scored)	wt: AATGGAAGGAAGTCA mu: AGTGGAAGGAAGTCA	TGGA\|agga
Donor gained	7089	0.37	mu: TTCAGAGTGGAAGGA	CAGA\|gtgg
Donor gained	7084	0.80	mu: AAGTCTTCAGAGTGG	GTCT\|tcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

104

mutated

all conserved

104

Ptroglodytes

all identical

ENSPTRG00000003055

104

Mmulatta

no alignment

ENSMMUG00000005390

n/a

Fcatus

no alignment

ENSFCAG00000009683

n/a

Mmusculus

all conserved

ENSMUSG00000031004

104

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000091150

104

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000005185

105

EQPQT

protein features

start (aa)	end (aa)	feature	details
108	108	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
109	109	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
125	125	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
128	128	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
131	131	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
264	264	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
308	308	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
328	328	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
347	347	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
352	352	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
357	357	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
374	374	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
401	401	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
411	411	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
538	538	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
543	543	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
579	579	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
584	584	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
619	626	CONFLICT	RKSGNLPS -> ERVATCLQ (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)
630	630	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
648	648	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
713	713	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
761	761	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
859	859	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1000	1112	REPEAT	1.	might get lost (downstream of altered splice site)
1000	2928	REGION	16 X 122 AA approximate repeats.	might get lost (downstream of altered splice site)
1017	1017	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1098	1098	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1111	1111	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1122	1234	REPEAT	2.	might get lost (downstream of altered splice site)
1131	1131	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1139	1139	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1176	1176	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1193	1193	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1207	1207	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1233	1233	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1237	1237	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1244	1356	REPEAT	3.	might get lost (downstream of altered splice site)
1253	1253	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1256	1256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1261	1261	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1298	1298	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1302	1302	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1315	1315	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1327	1327	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1329	1329	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1335	1335	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1355	1355	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1366	1477	REPEAT	4.	might get lost (downstream of altered splice site)
1375	1375	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1376	1376	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1383	1383	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1487	1598	REPEAT	5.	might get lost (downstream of altered splice site)
1503	1503	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1506	1506	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1540	1540	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1546	1546	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1552	1552	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1565	1565	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1569	1569	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1571	1571	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1608	1720	REPEAT	6.	might get lost (downstream of altered splice site)
1618	1618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1628	1628	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1629	1629	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1636	1636	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1639	1639	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
1679	1679	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1689	1689	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1719	1719	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1721	1721	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1726	1726	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1730	1842	REPEAT	7.	might get lost (downstream of altered splice site)
1740	1740	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1747	1747	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1764	1764	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1784	1784	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1801	1801	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1815	1815	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1841	1841	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1851	1964	REPEAT	8.	might get lost (downstream of altered splice site)
1861	1861	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1864	1864	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1869	1869	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1897	1897	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1923	1923	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1937	1937	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1974	2086	REPEAT	9.	might get lost (downstream of altered splice site)
1983	1983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2002	2002	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2005	2005	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2065	2065	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2085	2085	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2096	2204	REPEAT	10.	might get lost (downstream of altered splice site)
2105	2105	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2113	2113	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2135	2135	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2203	2203	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2205	2205	CONFLICT	I -> V (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)
2211	2211	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2214	2326	REPEAT	11.	might get lost (downstream of altered splice site)
2223	2223	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2231	2231	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2239	2239	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2264	2264	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2285	2285	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2299	2299	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2305	2305	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2325	2325	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2328	2328	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2332	2332	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2335	2447	REPEAT	12.	might get lost (downstream of altered splice site)
2344	2344	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2352	2352	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2355	2355	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2395	2395	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2406	2406	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2420	2420	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2426	2426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2446	2446	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2457	2569	REPEAT	13.	might get lost (downstream of altered splice site)
2466	2466	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2471	2471	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2505	2505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2508	2508	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2509	2509	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2528	2528	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2579	2689	REPEAT	14.	might get lost (downstream of altered splice site)
2588	2588	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2638	2638	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2699	2808	REPEAT	15.	might get lost (downstream of altered splice site)
2708	2708	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2818	2928	REPEAT	16.	might get lost (downstream of altered splice site)
2827	2827	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2828	2828	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2892	2893	CONFLICT	KL -> NV (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)
3034	3041	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
3041	3041	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3042	3042	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3082	3082	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3207	3207	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3213	3213	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
3216	3216	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3223	3223	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
3246	3246	CONFLICT	R -> T (in Ref. 1; CAA46519/CAA46520).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8691 / 8691

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

2897 / 2897

position of stopcodon in wt / mu cDNA

8886 / 8886

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

196 / 196

chromosome

strand

-1

last intron/exon boundary

8821

theoretical NMD boundary in CDS

8575

length of CDS

8691

coding sequence (CDS) position

311

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

506

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

7090

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

129917560

original gDNA sequence snippet

TGAAAATGAAAGTCTTCAGAATGGAAGGAAGTCAACTGAAT

altered gDNA sequence snippet

TGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAAT

original cDNA sequence snippet

TGAAAATGAAAGTCTTCAGAATGGAAGGAAGTCAACTGAAT

altered cDNA sequence snippet

TGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAAT

wildtype AA sequence

MWPTRRLVTI KRSGVDGPHF PLSLSTCLFG RGIECDIRIQ LPVVSKQHCK IEIHEQEAIL
HNFSSTNPTQ VNGSVIDEPV RLKHGDVITI IDRSFRYENE SLQNGRKSTE FPRKIREQEP
ARRVSRSSFS SDPDESEGIP LKRRRVSFGG HLRPELFDEN LPPNTPLKRG EAPTKRKSLV
MHTPPVLKKI IKEQPQPSGK QESGSEIHVE VKAQSLVISP PAPSPRKTPV ASDQRRRSCK
TAPASSSKSQ TEVPKRGGRK SGNLPSKRVS ISRSQHDILQ MICSKRRSGA SEANLIVAKS
WADVVKLGAK QTQTKVIKHG PQRSMNKRQR RPATPKKPVG EVHSQFSTGH ANSPCTIIIG
KAHTEKVHVP ARPYRVLNNF ISNQKMDFKE DLSGIAEMFK TPVKEQPQLT STCHIAISNS
ENLLGKQFQG TDSGEEPLLP TSESFGGNVF FSAQNAAKQP SDKCSASPPL RRQCIRENGN
VAKTPRNTYK MTSLETKTSD TETEPSKTVS TANRSGRSTE FRNIQKLPVE SKSEETNTEI
VECILKRGQK ATLLQQRREG EMKEIERPFE TYKENIELKE NDEKMKAMKR SRTWGQKCAP
MSDLTDLKSL PDTELMKDTA RGQNLLQTQD HAKAPKSEKG KITKMPCQSL QPEPINTPTH
TKQQLKASLG KVGVKEELLA VGKFTRTSGE TTHTHREPAG DGKSIRTFKE SPKQILDPAA
RVTGMKKWPR TPKEEAQSLE DLAGFKELFQ TPGPSEESMT DEKTTKIACK SPPPESVDTP
TSTKQWPKRS LRKADVEEEF LALRKLTPSA GKAMLTPKPA GGDEKDIKAF MGTPVQKLDL
AGTLPGSKRQ LQTPKEKAQA LEDLAGFKEL FQTPGHTEEL VAAGKTTKIP CDSPQSDPVD
TPTSTKQRPK RSIRKADVEG ELLACRNLMP SAGKAMHTPK PSVGEEKDII IFVGTPVQKL
DLTENLTGSK RRPQTPKEEA QALEDLTGFK ELFQTPGHTE EAVAAGKTTK MPCESSPPES
ADTPTSTRRQ PKTPLEKRDV QKELSALKKL TQTSGETTHT DKVPGGEDKS INAFRETAKQ
KLDPAASVTG SKRHPKTKEK AQPLEDLAGL KELFQTPVCT DKPTTHEKTT KIACRSQPDP
VDTPTSSKPQ SKRSLRKVDV EEEFFALRKR TPSAGKAMHT PKPAVSGEKN IYAFMGTPVQ
KLDLTENLTG SKRRLQTPKE KAQALEDLAG FKELFQTRGH TEESMTNDKT AKVACKSSQP
DPDKNPASSK RRLKTSLGKV GVKEELLAVG KLTQTSGETT HTHTEPTGDG KSMKAFMESP
KQILDSAASL TGSKRQLRTP KGKSEVPEDL AGFIELFQTP SHTKESMTNE KTTKVSYRAS
QPDLVDTPTS SKPQPKRSLR KADTEEEFLA FRKQTPSAGK AMHTPKPAVG EEKDINTFLG
TPVQKLDQPG NLPGSNRRLQ TRKEKAQALE ELTGFRELFQ TPCTDNPTTD EKTTKKILCK
SPQSDPADTP TNTKQRPKRS LKKADVEEEF LAFRKLTPSA GKAMHTPKAA VGEEKDINTF
VGTPVEKLDL LGNLPGSKRR PQTPKEKAKA LEDLAGFKEL FQTPGHTEES MTDDKITEVS
CKSPQPDPVK TPTSSKQRLK ISLGKVGVKE EVLPVGKLTQ TSGKTTQTHR ETAGDGKSIK
AFKESAKQML DPANYGTGME RWPRTPKEEA QSLEDLAGFK ELFQTPDHTE ESTTDDKTTK
IACKSPPPES MDTPTSTRRR PKTPLGKRDI VEELSALKQL TQTTHTDKVP GDEDKGINVF
RETAKQKLDP AASVTGSKRQ PRTPKGKAQP LEDLAGLKEL FQTPICTDKP TTHEKTTKIA
CRSPQPDPVG TPTIFKPQSK RSLRKADVEE ESLALRKRTP SVGKAMDTPK PAGGDEKDMK
AFMGTPVQKL DLPGNLPGSK RWPQTPKEKA QALEDLAGFK ELFQTPGTDK PTTDEKTTKI
ACKSPQPDPV DTPASTKQRP KRNLRKADVE EEFLALRKRT PSAGKAMDTP KPAVSDEKNI
NTFVETPVQK LDLLGNLPGS KRQPQTPKEK AEALEDLVGF KELFQTPGHT EESMTDDKIT
EVSCKSPQPE SFKTSRSSKQ RLKIPLVKVD MKEEPLAVSK LTRTSGETTQ THTEPTGDSK
SIKAFKESPK QILDPAASVT GSRRQLRTRK EKARALEDLV DFKELFSAPG HTEESMTIDK
NTKIPCKSPP PELTDTATST KRCPKTRPRK EVKEELSAVE RLTQTSGQST HTHKEPASGD
EGIKVLKQRA KKKPNPVEEE PSRRRPRAPK EKAQPLEDLA GFTELSETSG HTQESLTAGK
ATKIPCESPP LEVVDTTAST KRHLRTRVQK VQVKEEPSAV KFTQTSGETT DADKEPAGED
KGIKALKESA KQTPAPAASV TGSRRRPRAP RESAQAIEDL AGFKDPAAGH TEESMTDDKT
TKIPCKSSPE LEDTATSSKR RPRTRAQKVE VKEELLAVGK LTQTSGETTH TDKEPVGEGK
GTKAFKQPAK RKLDAEDVIG SRRQPRAPKE KAQPLEDLAS FQELSQTPGH TEELANGAAD
SFTSAPKQTP DSGKPLKISR RVLRAPKVEP VGDVVSTRDP VKSQSKSNTS LPPLPFKRGG
GKDGSVTGTK RLRCMPAPEE IVEELPASKK QRVAPRARGK SSEPVVIMKR SLRTSAKRIE
PAEELNSNDM KTNKEEHKLQ DSVPENKGIS LRSRRQNKTE AEQQITEVFV LAERIEINRN
EKKPMKTSPE MDIQNPDDGA RKPIPRDKVT ENKRCLRSAR QNESSQPKVA EESGGQKSAK
VLMQNQKGKG EAGNSDSMCL RSRKTKSQPA ASTLESKSVQ RVTRSVKRCA ENPKKAEDNV
CVKKIRTRSH RDSEDI*

mutated AA sequence

MWPTRRLVTI KRSGVDGPHF PLSLSTCLFG RGIECDIRIQ LPVVSKQHCK IEIHEQEAIL
HNFSSTNPTQ VNGSVIDEPV RLKHGDVITI IDRSFRYENE SLQSGRKSTE FPRKIREQEP
ARRVSRSSFS SDPDESEGIP LKRRRVSFGG HLRPELFDEN LPPNTPLKRG EAPTKRKSLV
MHTPPVLKKI IKEQPQPSGK QESGSEIHVE VKAQSLVISP PAPSPRKTPV ASDQRRRSCK
TAPASSSKSQ TEVPKRGGRK SGNLPSKRVS ISRSQHDILQ MICSKRRSGA SEANLIVAKS
WADVVKLGAK QTQTKVIKHG PQRSMNKRQR RPATPKKPVG EVHSQFSTGH ANSPCTIIIG
KAHTEKVHVP ARPYRVLNNF ISNQKMDFKE DLSGIAEMFK TPVKEQPQLT STCHIAISNS
ENLLGKQFQG TDSGEEPLLP TSESFGGNVF FSAQNAAKQP SDKCSASPPL RRQCIRENGN
VAKTPRNTYK MTSLETKTSD TETEPSKTVS TANRSGRSTE FRNIQKLPVE SKSEETNTEI
VECILKRGQK ATLLQQRREG EMKEIERPFE TYKENIELKE NDEKMKAMKR SRTWGQKCAP
MSDLTDLKSL PDTELMKDTA RGQNLLQTQD HAKAPKSEKG KITKMPCQSL QPEPINTPTH
TKQQLKASLG KVGVKEELLA VGKFTRTSGE TTHTHREPAG DGKSIRTFKE SPKQILDPAA
RVTGMKKWPR TPKEEAQSLE DLAGFKELFQ TPGPSEESMT DEKTTKIACK SPPPESVDTP
TSTKQWPKRS LRKADVEEEF LALRKLTPSA GKAMLTPKPA GGDEKDIKAF MGTPVQKLDL
AGTLPGSKRQ LQTPKEKAQA LEDLAGFKEL FQTPGHTEEL VAAGKTTKIP CDSPQSDPVD
TPTSTKQRPK RSIRKADVEG ELLACRNLMP SAGKAMHTPK PSVGEEKDII IFVGTPVQKL
DLTENLTGSK RRPQTPKEEA QALEDLTGFK ELFQTPGHTE EAVAAGKTTK MPCESSPPES
ADTPTSTRRQ PKTPLEKRDV QKELSALKKL TQTSGETTHT DKVPGGEDKS INAFRETAKQ
KLDPAASVTG SKRHPKTKEK AQPLEDLAGL KELFQTPVCT DKPTTHEKTT KIACRSQPDP
VDTPTSSKPQ SKRSLRKVDV EEEFFALRKR TPSAGKAMHT PKPAVSGEKN IYAFMGTPVQ
KLDLTENLTG SKRRLQTPKE KAQALEDLAG FKELFQTRGH TEESMTNDKT AKVACKSSQP
DPDKNPASSK RRLKTSLGKV GVKEELLAVG KLTQTSGETT HTHTEPTGDG KSMKAFMESP
KQILDSAASL TGSKRQLRTP KGKSEVPEDL AGFIELFQTP SHTKESMTNE KTTKVSYRAS
QPDLVDTPTS SKPQPKRSLR KADTEEEFLA FRKQTPSAGK AMHTPKPAVG EEKDINTFLG
TPVQKLDQPG NLPGSNRRLQ TRKEKAQALE ELTGFRELFQ TPCTDNPTTD EKTTKKILCK
SPQSDPADTP TNTKQRPKRS LKKADVEEEF LAFRKLTPSA GKAMHTPKAA VGEEKDINTF
VGTPVEKLDL LGNLPGSKRR PQTPKEKAKA LEDLAGFKEL FQTPGHTEES MTDDKITEVS
CKSPQPDPVK TPTSSKQRLK ISLGKVGVKE EVLPVGKLTQ TSGKTTQTHR ETAGDGKSIK
AFKESAKQML DPANYGTGME RWPRTPKEEA QSLEDLAGFK ELFQTPDHTE ESTTDDKTTK
IACKSPPPES MDTPTSTRRR PKTPLGKRDI VEELSALKQL TQTTHTDKVP GDEDKGINVF
RETAKQKLDP AASVTGSKRQ PRTPKGKAQP LEDLAGLKEL FQTPICTDKP TTHEKTTKIA
CRSPQPDPVG TPTIFKPQSK RSLRKADVEE ESLALRKRTP SVGKAMDTPK PAGGDEKDMK
AFMGTPVQKL DLPGNLPGSK RWPQTPKEKA QALEDLAGFK ELFQTPGTDK PTTDEKTTKI
ACKSPQPDPV DTPASTKQRP KRNLRKADVE EEFLALRKRT PSAGKAMDTP KPAVSDEKNI
NTFVETPVQK LDLLGNLPGS KRQPQTPKEK AEALEDLVGF KELFQTPGHT EESMTDDKIT
EVSCKSPQPE SFKTSRSSKQ RLKIPLVKVD MKEEPLAVSK LTRTSGETTQ THTEPTGDSK
SIKAFKESPK QILDPAASVT GSRRQLRTRK EKARALEDLV DFKELFSAPG HTEESMTIDK
NTKIPCKSPP PELTDTATST KRCPKTRPRK EVKEELSAVE RLTQTSGQST HTHKEPASGD
EGIKVLKQRA KKKPNPVEEE PSRRRPRAPK EKAQPLEDLA GFTELSETSG HTQESLTAGK
ATKIPCESPP LEVVDTTAST KRHLRTRVQK VQVKEEPSAV KFTQTSGETT DADKEPAGED
KGIKALKESA KQTPAPAASV TGSRRRPRAP RESAQAIEDL AGFKDPAAGH TEESMTDDKT
TKIPCKSSPE LEDTATSSKR RPRTRAQKVE VKEELLAVGK LTQTSGETTH TDKEPVGEGK
GTKAFKQPAK RKLDAEDVIG SRRQPRAPKE KAQPLEDLAS FQELSQTPGH TEELANGAAD
SFTSAPKQTP DSGKPLKISR RVLRAPKVEP VGDVVSTRDP VKSQSKSNTS LPPLPFKRGG
GKDGSVTGTK RLRCMPAPEE IVEELPASKK QRVAPRARGK SSEPVVIMKR SLRTSAKRIE
PAEELNSNDM KTNKEEHKLQ DSVPENKGIS LRSRRQNKTE AEQQITEVFV LAERIEINRN
EKKPMKTSPE MDIQNPDDGA RKPIPRDKVT ENKRCLRSAR QNESSQPKVA EESGGQKSAK
VLMQNQKGKG EAGNSDSMCL RSRKTKSQPA ASTLESKSVQ RVTRSVKRCA ENPKKAEDNV
CVKKIRTRSH RDSEDI*

speed

0.61 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems