mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:4217510A>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD24

Ensembl transcript ID

ENST00000262970

Genbank transcript ID

N/A

UniProt peptide

Q8TF21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2623A>T
cDNA.2623A>T
g.31244A>T

AA changes

T875S Score: 58 explain score(s)

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

875

frameshift

known variant

Reference ID: rs12980998

database	homozygous (T/T)	heterozygous	allele carriers
1000G	191	969	1160
ExAC	5	35	40

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.796	0
	0.853	0.001
(flanking)	-0.923	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	31248	wt: 0.9480 / mu: 0.9482 (marginal change - not scored)	wt: CACACAGCTGCGGGC mu: CTCACAGCTGCGGGC	CACA\|gctg

distance from splice site

651

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

875

mutated

all conserved

875

Ptroglodytes

all identical

ENSPTRG00000010297

744

Mmulatta

not conserved

ENSMMUG00000028928

237

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000054708

817

Ggallus

not conserved

ENSGALG00000001235

672

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062103

749

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
714	1110	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3711 / 3711

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

1237 / 1237

position of stopcodon in wt / mu cDNA

3711 / 3711

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

1 / 1

chromosome

strand

last intron/exon boundary

3634

theoretical NMD boundary in CDS

3583

length of CDS

3711

coding sequence (CDS) position

2623

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

2623

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

31244

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

4217510

original gDNA sequence snippet

GGGGCGGTGGCGGTGACACCACACAGCTGCGGGCGGCCCTG

altered gDNA sequence snippet

GGGGCGGTGGCGGTGACACCTCACAGCTGCGGGCGGCCCTG

original cDNA sequence snippet

GGGGCGGTGGCGGTGACACCACACAGCTGCGGGCGGCCCTG

altered cDNA sequence snippet

GGGGCGGTGGCGGTGACACCTCACAGCTGCGGGCGGCCCTG

wildtype AA sequence

MQPAACAGEG AGPPAPRPPH PPGDKVRRGR GGAPSLSPQP PAPYLGLPIP SRGGGGWRGG
QGGGGGTREG GTGRAGGAGS SGSAQPRPPA APRGPSRPSG RRLLLEPRAP PAPRAPDAMK
QLCLCAAASF ASQDWGKSDE RLLQAVENND APRVAALIAR KGLVPTKLDP EGKSAFHLAA
MRGAASCLEV MIAHGSNVMS ADGAGYNALH LAAKYGHPQC LKQLLQASCV VDVVDSSGWT
ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ
DLQGRTALML ACEGASPETV EVLLQGGAQP GITDALGQDA AHYGALAGDK LILHLLQEAA
QRPSPPSALT EDDSGEASSQ NSMSSHGKQG APKKRKAPPP PASIPMPDDR DAYEEIVRLR
QERGRLLQKI RGLEQHKERR QQESPEASSL HILERQVQEL QQLLVERQEE KESLGREVES
LQSRLSLLEN ERENTSYDVT TLQDEEGELP DLPGAEVLLS RQLSPSAQEH LASLQEQVAV
LTRQNQELME KVQILENFEK DETQMEVEAL AEVIPLALYD SLRAEFDQLR RQHAEALQAL
RQQETREVPR EEGAACGESE VAGATATKNG PTHMELNGSV APETKVNGAE TIDEEAAGDE
TMEARTMEAE ATGAEATGAE ATGAKVTETK PTGAEVREME TTEEEANMET KPTGAQATDT
ETTGVEAMGV EATKTKAEEA EMQAYGVGAG QAEPPVTGTT NMEATGSRAT GMESTGVSAT
GVENPGVEAT VPGISAGPIL HPGAAEASEK LQVELETRIR GLEEALRQRE REAAAELEAA
LGKCEAAEAE AGRLRERVRE AEGSGASGGG GGDTTQLRAA LEQAREDLRD RDSRLRELEA
ASACLDEARA SRLLAEEEAR GLRAELAQRE EARLEQSREL EVLREQLATA RATGEQQRTA
AAELGRARDA AEARVAELPA ACEEARQGLA ELREASEALR QSVVPASEHR RLQEEALELR
GRAASLEQEV VATGKEAARL RAELERERVC SVALSEHERI VGTLQANVAQ LEGQLEELGR
RHEKTSAEVF QVQREALFMK SERHAAEAQL ATAEQQLRGL RTEAERARQA QSRAQEALDK
AKEKDKKITE LSKEVFNLKE ALKEQPAALA TPEVEALRDQ VKDLQQQLQE AARDHSSVVA
LYRSHLLYAI QGQMDEDVQR ILSQILQMQR LQAQGR*

mutated AA sequence

MQPAACAGEG AGPPAPRPPH PPGDKVRRGR GGAPSLSPQP PAPYLGLPIP SRGGGGWRGG
QGGGGGTREG GTGRAGGAGS SGSAQPRPPA APRGPSRPSG RRLLLEPRAP PAPRAPDAMK
QLCLCAAASF ASQDWGKSDE RLLQAVENND APRVAALIAR KGLVPTKLDP EGKSAFHLAA
MRGAASCLEV MIAHGSNVMS ADGAGYNALH LAAKYGHPQC LKQLLQASCV VDVVDSSGWT
ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ
DLQGRTALML ACEGASPETV EVLLQGGAQP GITDALGQDA AHYGALAGDK LILHLLQEAA
QRPSPPSALT EDDSGEASSQ NSMSSHGKQG APKKRKAPPP PASIPMPDDR DAYEEIVRLR
QERGRLLQKI RGLEQHKERR QQESPEASSL HILERQVQEL QQLLVERQEE KESLGREVES
LQSRLSLLEN ERENTSYDVT TLQDEEGELP DLPGAEVLLS RQLSPSAQEH LASLQEQVAV
LTRQNQELME KVQILENFEK DETQMEVEAL AEVIPLALYD SLRAEFDQLR RQHAEALQAL
RQQETREVPR EEGAACGESE VAGATATKNG PTHMELNGSV APETKVNGAE TIDEEAAGDE
TMEARTMEAE ATGAEATGAE ATGAKVTETK PTGAEVREME TTEEEANMET KPTGAQATDT
ETTGVEAMGV EATKTKAEEA EMQAYGVGAG QAEPPVTGTT NMEATGSRAT GMESTGVSAT
GVENPGVEAT VPGISAGPIL HPGAAEASEK LQVELETRIR GLEEALRQRE REAAAELEAA
LGKCEAAEAE AGRLRERVRE AEGSGASGGG GGDTSQLRAA LEQAREDLRD RDSRLRELEA
ASACLDEARA SRLLAEEEAR GLRAELAQRE EARLEQSREL EVLREQLATA RATGEQQRTA
AAELGRARDA AEARVAELPA ACEEARQGLA ELREASEALR QSVVPASEHR RLQEEALELR
GRAASLEQEV VATGKEAARL RAELERERVC SVALSEHERI VGTLQANVAQ LEGQLEELGR
RHEKTSAEVF QVQREALFMK SERHAAEAQL ATAEQQLRGL RTEAERARQA QSRAQEALDK
AKEKDKKITE LSKEVFNLKE ALKEQPAALA TPEVEALRDQ VKDLQQQLQE AARDHSSVVA
LYRSHLLYAI QGQMDEDVQR ILSQILQMQR LQAQGR*

speed

0.99 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