Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992546 (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) chr17:43507008G>CN/A show variant in all transcripts   IGV
HGNC symbol ARHGAP27
Ensembl transcript ID ENST00000428638
Genbank transcript ID N/A
UniProt peptide Q6ZUM4
alteration type single base exchange
alteration region CDS
DNA changes c.638C>G
cDNA.638C>G
g.4780C>G
AA changes P213R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 213
frameshift no
known variant Reference ID: rs2959953
databasehomozygous (C/C)heterozygousallele carriers
1000G97511532128
ExAC13872502318895
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0120
-0.5660
(flanking)0.3140.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained47740.91mu: CGTCCCGCCGCGGGA TCCC|gccg
Donor gained47790.49mu: CGCCGCGGGAGGAGA CCGC|ggga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213YEVIQDLHVPPPEESAEQVDDPPE
mutated  not conserved    213YEVIQDLHVPPREESAEQVDDPP
Ptroglodytes  not conserved  ENSPTRG00000009304  213YEVIQDLHVPPREESAEQVDDPP
Mmulatta  all identical  ENSMMUG00000021932  150HFTQEQVPVPAPRSIHKSSQDDDTP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000034255  212YEAIPDLRCPPRAESPKQVDDPP
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000005700  n/a
Drerio  all identical  ENSDARG00000061798  214VEIPIIKNLNETKPHRKSPELESPI
Dmelanogaster  no homologue    
Celegans  not conserved  C38D4.5  55QTNVSAANTLPRESNGQNYADDP
Xtropicalis  no alignment  ENSXETG00000003467  n/a
protein features
start (aa)end (aa)featuredetails 
213213CONFLICTP -> R (in Ref. 4; AAH67345).lost
216216MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
228228MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
246280DOMAINWW 1.might get lost (downstream of altered splice site)
299333DOMAINWW 2.might get lost (downstream of altered splice site)
411444DOMAINWW 3.might get lost (downstream of altered splice site)
496612DOMAINPH.might get lost (downstream of altered splice site)
499510STRANDmight get lost (downstream of altered splice site)
521528STRANDmight get lost (downstream of altered splice site)
531536STRANDmight get lost (downstream of altered splice site)
549552HELIXmight get lost (downstream of altered splice site)
554560STRANDmight get lost (downstream of altered splice site)
565568STRANDmight get lost (downstream of altered splice site)
571573HELIXmight get lost (downstream of altered splice site)
575583STRANDmight get lost (downstream of altered splice site)
589593STRANDmight get lost (downstream of altered splice site)
597611HELIXmight get lost (downstream of altered splice site)
638638MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
697886DOMAINRho-GAP.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2670 / 2670
position (AA) of stopcodon in wt / mu AA sequence 890 / 890
position of stopcodon in wt / mu cDNA 2670 / 2670
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 17
strand -1
last intron/exon boundary 2493
theoretical NMD boundary in CDS 2442
length of CDS 2670
coding sequence (CDS) position 638
cDNA position
(for ins/del: last normal base / first normal base)		 638
gDNA position
(for ins/del: last normal base / first normal base)		 4780
chromosomal position
(for ins/del: last normal base / first normal base)		 43507008
original gDNA sequence snippet GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG
altered gDNA sequence snippet GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG
original cDNA sequence snippet GGACTTGCACGTCCCGCCGCCGGAGGAGAGCGCAGAGCAGG
altered cDNA sequence snippet GGACTTGCACGTCCCGCCGCGGGAGGAGAGCGCAGAGCAGG
wildtype AA sequence MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPPEESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQWVRL
EDPHGKPYFY NPEDSSVRWE LPQVPVPAPR SIHKSSQDGD TPAQASPPEE KVPAELDEVG
SWEEVSPATA AVRTKTLDKA GVLHRTKTAD KGKRLRKKHW SASWTVLEGG VLTFFKDSKT
SAAGGLRQPS KFSTPEYTVE LRGATLSWAP KDKSSRKNVL ELRSRDGSEY LIQHDSEAII
STWHKAIAQG IQELSAELPP EESESSRVDF GSSERLGSWQ EKEEDARPNA AAPALGPVGL
ESDLSKVRHK LRKFLQRRPT LQSLREKGYI KDQVFGCALA ALCERERSRV PRFVQQCIRA
VEARGLDIDG LYRISGNLAT IQKLRYKVDH DERLDLDDGR WEDVHVITGA LKLFFRELPE
PLFPFSHFRQ FIAAIKLQDQ ARRSRCVRDL VRSLPAPNHD TLRMLFQHLC RVIEHGEQNR
MSVQSVAIVF GPTLLRPEVE ETSMPMTMVF QNQVVELILQ QCADIFPPH*
mutated AA sequence MAADVVGDVY VLVEHPFEYT GKDGRRVAIR PNERYRLLRR STEHWWHVRR EPGGRPFYLP
AQYVRELPAL GNPAAAAPPG PHPSPAAPEP LAYDYRFVSA AATAGPDGAP EESGGRASSL
CGPAQRGAAT QRSSLAPGLP ACLYLRPAAP VRPAQSLNDL ACAAVSPPAG LLGSSGSFKA
CSVAGSWVCP RPLARSDSEN VYEVIQDLHV PPREESAEQV DDPPEPVYAN IERQPRATSP
GAAAAPLPSP VWETHTDAGT GRPYYYNPDT GVTTWESPFE AAEGAASPAT SPASVDSHVS
LETEWGQYWD EESRRVFFYN PLTGETAWED EAENEPEEEL EMQPGLSPGS PGDPRPPTPE
TDYPESLTSY PEEDYSPVGS FGEPGPTSPL TTPPGWSCHV SQDKQMLYTN HFTQEQWVRL
EDPHGKPYFY NPEDSSVRWE LPQVPVPAPR SIHKSSQDGD TPAQASPPEE KVPAELDEVG
SWEEVSPATA AVRTKTLDKA GVLHRTKTAD KGKRLRKKHW SASWTVLEGG VLTFFKDSKT
SAAGGLRQPS KFSTPEYTVE LRGATLSWAP KDKSSRKNVL ELRSRDGSEY LIQHDSEAII
STWHKAIAQG IQELSAELPP EESESSRVDF GSSERLGSWQ EKEEDARPNA AAPALGPVGL
ESDLSKVRHK LRKFLQRRPT LQSLREKGYI KDQVFGCALA ALCERERSRV PRFVQQCIRA
VEARGLDIDG LYRISGNLAT IQKLRYKVDH DERLDLDDGR WEDVHVITGA LKLFFRELPE
PLFPFSHFRQ FIAAIKLQDQ ARRSRCVRDL VRSLPAPNHD TLRMLFQHLC RVIEHGEQNR
MSVQSVAIVF GPTLLRPEVE ETSMPMTMVF QNQVVELILQ QCADIFPPH*
speed 1.18 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