Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000205386
Querying Taster for transcript #2: ENST00000388781
Querying Taster for transcript #3: ENST00000388780
Querying Taster for transcript #4: ENST00000414450
MT speed 0 s - this script 6.39065 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LAMB4polymorphism_automatic2.74940070710272e-11simple_aaeaffectedV591Fsingle base exchangers9690688show file
LAMB4polymorphism_automatic4.53082016349526e-10simple_aaeaffectedV591Fsingle base exchangers9690688show file
LAMB4polymorphism_automatic4.53082016349526e-10simple_aaeaffectedV591Fsingle base exchangers9690688show file
LAMB4polymorphism_automatic4.53082016349526e-10simple_aaeaffectedV591Fsingle base exchangers9690688show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999972506 (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) chr7:107720162C>AN/A show variant in all transcripts   IGV
HGNC symbol LAMB4
Ensembl transcript ID ENST00000414450
Genbank transcript ID N/A
UniProt peptide A4D0S4
alteration type single base exchange
alteration region CDS
DNA changes c.1771G>T
cDNA.1855G>T
g.50640G>T
AA changes V591F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 591
frameshift no
known variant Reference ID: rs9690688
databasehomozygous (A/A)heterozygousallele carriers
1000G162538700
ExAC1186904710233
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0970
0.1560
(flanking)-0.4460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased50646wt: 0.44 / mu: 0.79wt: TTCCTGGGAACCCTGTTACATGGACTGGACCTGGATTTGCC
mu: TTCCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCC		 acat|GGAC
Acc gained506480.42mu: CCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCCAG atgg|ACTG
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      591VVLGEPVPGNPVTWTGPGFARVLP
mutated  not conserved    591VVLGEPVPGNPFTWTGPGFAR
Ptroglodytes  all identical  ENSPTRG00000019588  591VVLGEPVPGNPVTWSGPGFAR
Mmulatta  all identical  ENSMMUG00000021289  589IVLGEPVPGNPVTWTGPGFA
Fcatus  not conserved  ENSFCAG00000004479  531GVFREPVPGSPTAWTGPGFARVL
Mmusculus  no homologue    
Ggallus  no alignment  ENSGALG00000007917  n/a
Trubripes  all conserved  ENSTRUG00000008717  526LIIPRQRTAGQPITW
Drerio  no alignment  ENSDARG00000039133  n/a
Dmelanogaster  not conserved  FBgn0261800  613LVAETP----DGSFTGIGFTRVP
Celegans  not conserved  W03F8.5  621VKTREWPSQPHEQTFTGE
Xtropicalis  all conserved  ENSXETG00000033209  591VVLRQPTPRSDITWTGPGFAR
protein features
start (aa)end (aa)featuredetails 
545763DOMAINLaminin IV type B.lost
769769DISULFIDBy similarity.might get lost (downstream of altered splice site)
769816DOMAINLaminin EGF-like 6.might get lost (downstream of altered splice site)
771771DISULFIDBy similarity.might get lost (downstream of altered splice site)
781781DISULFIDBy similarity.might get lost (downstream of altered splice site)
788788DISULFIDBy similarity.might get lost (downstream of altered splice site)
790790DISULFIDBy similarity.might get lost (downstream of altered splice site)
799799DISULFIDBy similarity.might get lost (downstream of altered splice site)
802802DISULFIDBy similarity.might get lost (downstream of altered splice site)
814814DISULFIDBy similarity.might get lost (downstream of altered splice site)
817817DISULFIDBy similarity.might get lost (downstream of altered splice site)
817862DOMAINLaminin EGF-like 7.might get lost (downstream of altered splice site)
819819DISULFIDBy similarity.might get lost (downstream of altered splice site)
829829DISULFIDBy similarity.might get lost (downstream of altered splice site)
836836DISULFIDBy similarity.might get lost (downstream of altered splice site)
838838DISULFIDBy similarity.might get lost (downstream of altered splice site)
847847DISULFIDBy similarity.might get lost (downstream of altered splice site)
850850DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
863863DISULFIDBy similarity.might get lost (downstream of altered splice site)
863910DOMAINLaminin EGF-like 8.might get lost (downstream of altered splice site)
865865DISULFIDBy similarity.might get lost (downstream of altered splice site)
872872DISULFIDBy similarity.might get lost (downstream of altered splice site)
879879DISULFIDBy similarity.might get lost (downstream of altered splice site)
882882DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
894894DISULFIDBy similarity.might get lost (downstream of altered splice site)
908908DISULFIDBy similarity.might get lost (downstream of altered splice site)
911969DOMAINLaminin EGF-like 9.might get lost (downstream of altered splice site)
913913DISULFIDBy similarity.might get lost (downstream of altered splice site)
938938DISULFIDBy similarity.might get lost (downstream of altered splice site)
940940DISULFIDBy similarity.might get lost (downstream of altered splice site)
949949DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
967967DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
9701021DOMAINLaminin EGF-like 10.might get lost (downstream of altered splice site)
972972DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
991991DISULFIDBy similarity.might get lost (downstream of altered splice site)
994994DISULFIDBy similarity.might get lost (downstream of altered splice site)
10031003DISULFIDBy similarity.might get lost (downstream of altered splice site)
10061006DISULFIDBy similarity.might get lost (downstream of altered splice site)
10161016CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10191019DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221079DOMAINLaminin EGF-like 11.might get lost (downstream of altered splice site)
10241024DISULFIDBy similarity.might get lost (downstream of altered splice site)
10431043DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10521052DISULFIDBy similarity.might get lost (downstream of altered splice site)
10551055CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10611061DISULFIDBy similarity.might get lost (downstream of altered splice site)
10641064DISULFIDBy similarity.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801080DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801127DOMAINLaminin EGF-like 12.might get lost (downstream of altered splice site)
10821082DISULFIDBy similarity.might get lost (downstream of altered splice site)
10921092DISULFIDBy similarity.might get lost (downstream of altered splice site)
10991099DISULFIDBy similarity.might get lost (downstream of altered splice site)
11011101DISULFIDBy similarity.might get lost (downstream of altered splice site)
11101110DISULFIDBy similarity.might get lost (downstream of altered splice site)
11131113DISULFIDBy similarity.might get lost (downstream of altered splice site)
11251125DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281174DOMAINLaminin EGF-like 13.might get lost (downstream of altered splice site)
11301130DISULFIDBy similarity.might get lost (downstream of altered splice site)
11401140DISULFIDBy similarity.might get lost (downstream of altered splice site)
11471147DISULFIDBy similarity.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581158DISULFIDBy similarity.might get lost (downstream of altered splice site)
11611161DISULFIDBy similarity.might get lost (downstream of altered splice site)
11721172DISULFIDBy similarity.might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751375REGIONDomain II.might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
12231223CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12431301COILEDPotential.might get lost (downstream of altered splice site)
13011301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13261326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13331333CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13761408REGIONDomain alpha.might get lost (downstream of altered splice site)
14091761REGIONDomain I.might get lost (downstream of altered splice site)
14161480COILEDPotential.might get lost (downstream of altered splice site)
14691469CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15171517CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251759COILEDPotential.might get lost (downstream of altered splice site)
15421542CONFLICTL -> S (in Ref. 1; AAC95123).might get lost (downstream of altered splice site)
15871587CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15961596CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17251725CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2319 / 2319
position (AA) of stopcodon in wt / mu AA sequence 773 / 773
position of stopcodon in wt / mu cDNA 2403 / 2403
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 85 / 85
chromosome 7
strand -1
last intron/exon boundary 2209
theoretical NMD boundary in CDS 2074
length of CDS 2319
coding sequence (CDS) position 1771
cDNA position
(for ins/del: last normal base / first normal base)		 1855
gDNA position
(for ins/del: last normal base / first normal base)		 50640
chromosomal position
(for ins/del: last normal base / first normal base)		 107720162
original gDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered gDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
original cDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered cDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
wildtype AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP VTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSAA VQWHNLGSLQ
PPPPECKQFS CFSFPSSWDY RHPPPHLANF CIFSRDGVSP HWPGWSQTPD LR*
mutated AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP FTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSAA VQWHNLGSLQ
PPPPECKQFS CFSFPSSWDY RHPPPHLANF CIFSRDGVSP HWPGWSQTPD LR*
speed 1.39 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999546918 (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) chr7:107720162C>AN/A show variant in all transcripts   IGV
HGNC symbol LAMB4
Ensembl transcript ID ENST00000205386
Genbank transcript ID N/A
UniProt peptide A4D0S4
alteration type single base exchange
alteration region CDS
DNA changes c.1771G>T
cDNA.1851G>T
g.50640G>T
AA changes V591F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 591
frameshift no
known variant Reference ID: rs9690688
databasehomozygous (A/A)heterozygousallele carriers
1000G162538700
ExAC1186904710233
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0970
0.1560
(flanking)-0.4460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased50646wt: 0.44 / mu: 0.79wt: TTCCTGGGAACCCTGTTACATGGACTGGACCTGGATTTGCC
mu: TTCCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCC		 acat|GGAC
Acc gained506480.42mu: CCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCCAG atgg|ACTG
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      591VVLGEPVPGNPVTWTGPGFARVLP
mutated  not conserved    591VVLGEPVPGNPFTWTGPGFAR
Ptroglodytes  all identical  ENSPTRG00000019588  591VVLGEPVPGNPVTWSGPGFAR
Mmulatta  all identical  ENSMMUG00000021289  589IVLGEPVPGNPVTWTGPGFA
Fcatus  not conserved  ENSFCAG00000004479  531GVFREPVPGSPTAWTGPGFARVL
Mmusculus  no homologue    
Ggallus  all identical  ENSGALG00000007917  677VVFRQPSTGRAVTWTGPGFIRVP
Trubripes  all conserved  ENSTRUG00000008717  526LIIPRQRTAGQPITW
Drerio  all conserved  ENSDARG00000039133  675ILLRQRANDQSITWTGLGFVRVQ
Dmelanogaster  not conserved  FBgn0261800  613LVAETP----DGSFTGIGFTRVP
Celegans  not conserved  W03F8.5  621VKTREWPSQPHEQTFTGE
Xtropicalis  all conserved  ENSXETG00000033209  591VVLRQPTPRSDITWTGPGFAR
protein features
start (aa)end (aa)featuredetails 
545763DOMAINLaminin IV type B.lost
769769DISULFIDBy similarity.might get lost (downstream of altered splice site)
769816DOMAINLaminin EGF-like 6.might get lost (downstream of altered splice site)
771771DISULFIDBy similarity.might get lost (downstream of altered splice site)
781781DISULFIDBy similarity.might get lost (downstream of altered splice site)
788788DISULFIDBy similarity.might get lost (downstream of altered splice site)
790790DISULFIDBy similarity.might get lost (downstream of altered splice site)
799799DISULFIDBy similarity.might get lost (downstream of altered splice site)
802802DISULFIDBy similarity.might get lost (downstream of altered splice site)
814814DISULFIDBy similarity.might get lost (downstream of altered splice site)
817817DISULFIDBy similarity.might get lost (downstream of altered splice site)
817862DOMAINLaminin EGF-like 7.might get lost (downstream of altered splice site)
819819DISULFIDBy similarity.might get lost (downstream of altered splice site)
829829DISULFIDBy similarity.might get lost (downstream of altered splice site)
836836DISULFIDBy similarity.might get lost (downstream of altered splice site)
838838DISULFIDBy similarity.might get lost (downstream of altered splice site)
847847DISULFIDBy similarity.might get lost (downstream of altered splice site)
850850DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
863863DISULFIDBy similarity.might get lost (downstream of altered splice site)
863910DOMAINLaminin EGF-like 8.might get lost (downstream of altered splice site)
865865DISULFIDBy similarity.might get lost (downstream of altered splice site)
872872DISULFIDBy similarity.might get lost (downstream of altered splice site)
879879DISULFIDBy similarity.might get lost (downstream of altered splice site)
882882DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
894894DISULFIDBy similarity.might get lost (downstream of altered splice site)
908908DISULFIDBy similarity.might get lost (downstream of altered splice site)
911969DOMAINLaminin EGF-like 9.might get lost (downstream of altered splice site)
913913DISULFIDBy similarity.might get lost (downstream of altered splice site)
938938DISULFIDBy similarity.might get lost (downstream of altered splice site)
940940DISULFIDBy similarity.might get lost (downstream of altered splice site)
949949DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
967967DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
9701021DOMAINLaminin EGF-like 10.might get lost (downstream of altered splice site)
972972DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
991991DISULFIDBy similarity.might get lost (downstream of altered splice site)
994994DISULFIDBy similarity.might get lost (downstream of altered splice site)
10031003DISULFIDBy similarity.might get lost (downstream of altered splice site)
10061006DISULFIDBy similarity.might get lost (downstream of altered splice site)
10161016CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10191019DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221079DOMAINLaminin EGF-like 11.might get lost (downstream of altered splice site)
10241024DISULFIDBy similarity.might get lost (downstream of altered splice site)
10431043DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10521052DISULFIDBy similarity.might get lost (downstream of altered splice site)
10551055CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10611061DISULFIDBy similarity.might get lost (downstream of altered splice site)
10641064DISULFIDBy similarity.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801080DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801127DOMAINLaminin EGF-like 12.might get lost (downstream of altered splice site)
10821082DISULFIDBy similarity.might get lost (downstream of altered splice site)
10921092DISULFIDBy similarity.might get lost (downstream of altered splice site)
10991099DISULFIDBy similarity.might get lost (downstream of altered splice site)
11011101DISULFIDBy similarity.might get lost (downstream of altered splice site)
11101110DISULFIDBy similarity.might get lost (downstream of altered splice site)
11131113DISULFIDBy similarity.might get lost (downstream of altered splice site)
11251125DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281174DOMAINLaminin EGF-like 13.might get lost (downstream of altered splice site)
11301130DISULFIDBy similarity.might get lost (downstream of altered splice site)
11401140DISULFIDBy similarity.might get lost (downstream of altered splice site)
11471147DISULFIDBy similarity.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581158DISULFIDBy similarity.might get lost (downstream of altered splice site)
11611161DISULFIDBy similarity.might get lost (downstream of altered splice site)
11721172DISULFIDBy similarity.might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751375REGIONDomain II.might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
12231223CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12431301COILEDPotential.might get lost (downstream of altered splice site)
13011301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13261326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13331333CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13761408REGIONDomain alpha.might get lost (downstream of altered splice site)
14091761REGIONDomain I.might get lost (downstream of altered splice site)
14161480COILEDPotential.might get lost (downstream of altered splice site)
14691469CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15171517CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251759COILEDPotential.might get lost (downstream of altered splice site)
15421542CONFLICTL -> S (in Ref. 1; AAC95123).might get lost (downstream of altered splice site)
15871587CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15961596CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17251725CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5286 / 5286
position (AA) of stopcodon in wt / mu AA sequence 1762 / 1762
position of stopcodon in wt / mu cDNA 5366 / 5366
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 81 / 81
chromosome 7
strand -1
last intron/exon boundary 5227
theoretical NMD boundary in CDS 5096
length of CDS 5286
coding sequence (CDS) position 1771
cDNA position
(for ins/del: last normal base / first normal base)		 1851
gDNA position
(for ins/del: last normal base / first normal base)		 50640
chromosomal position
(for ins/del: last normal base / first normal base)		 107720162
original gDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered gDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
original cDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered cDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
wildtype AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP VTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSLG LIPQINSLEN
FCSKQDLDEY QLHNCVEIAS AMGPQVLPGA CERLIISMSA KLHDGAVACK CHPQGSVGSS
CSRLGGQCQC KPLVVGRCCD RCSTGSYDLG HHGCHPCHCH PQGSKDTVCD QVTGQCPCHG
EVSGRRCDRC LAGYFGFPSC HPCPCNRFAE LCDPETGSCF NCGGFTTGRN CERCIDGYYG
NPSSGQPCRP CLCPDDPSSN QYFAHSCYQN LWSSDVICNC LQGYTGTQCG ECSTGFYGNP
RISGAPCQPC ACNNNIDVTD PESCSRVTGE CLRCLHNTQG ANCQLCKPGH YGSALNQTCR
RCSCHASGVS PMECPPGGGA CLCDPVTGAC PCLPNVTGLA CDRCADGYWN LVPGRGCQSC
DCDPRTSQSS HCDQLTGQCP CKLGYGGKRC SECQENYYGD PPGRCIPCDC NRAGTQKPIC
DPDTGMCRCR EGVSGQRCDR CARGHSQEFP TCLQCHLCFD QWDHTISSLS KAVQGLMRLA
ANMEDKRETL PVCEADFKDL RGNVSEIERI LKHPVFPSGK FLKVKDYHDS VRRQIMQLNE
QLKAVYEFQD LKDTIERAKN EADLLLEDLQ EEIDLQSSVL NASIADSSEN IKKYYHISSS
AEKKINETSS TINTSANTRN DLLTILDTLT SKGNLSLERL KQIKIPDIQI LNEKVCGDPG
NVPCVPLPCG GALCTGRKGH RKCRGPGCHG SLTLSTNALQ KAQEAKSIIR NLDKQVRGLK
NQIESISEQA EVSKNNALQL REKLGNIRNQ SDSEEENINL FIKKVKNFLL EENVPPEDIE
KVANGVLDIH LPIPSQNLTD ELVKIQKHMQ LCEDYRTDEN RLNEEADGAQ KLLVKAKAAE
KAANILLNLD KTLNQLQQAQ ITQGRANSTI TQLTANITKI KKNVLQAENQ TREMKSELEL
AKQRSGLEDG LSLLQTKLQR HQDHAVNAKV QAESAQHQAG SLEKEFVELK KQYAILQRKT
STTGLTKETL GKVKQLKDAA EKLAGDTEAK IRRITDLERK IQDLNLSRQA KADQLRILED
QVVAIKNEIV EQEKKYARCY S*
mutated AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP FTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSLG LIPQINSLEN
FCSKQDLDEY QLHNCVEIAS AMGPQVLPGA CERLIISMSA KLHDGAVACK CHPQGSVGSS
CSRLGGQCQC KPLVVGRCCD RCSTGSYDLG HHGCHPCHCH PQGSKDTVCD QVTGQCPCHG
EVSGRRCDRC LAGYFGFPSC HPCPCNRFAE LCDPETGSCF NCGGFTTGRN CERCIDGYYG
NPSSGQPCRP CLCPDDPSSN QYFAHSCYQN LWSSDVICNC LQGYTGTQCG ECSTGFYGNP
RISGAPCQPC ACNNNIDVTD PESCSRVTGE CLRCLHNTQG ANCQLCKPGH YGSALNQTCR
RCSCHASGVS PMECPPGGGA CLCDPVTGAC PCLPNVTGLA CDRCADGYWN LVPGRGCQSC
DCDPRTSQSS HCDQLTGQCP CKLGYGGKRC SECQENYYGD PPGRCIPCDC NRAGTQKPIC
DPDTGMCRCR EGVSGQRCDR CARGHSQEFP TCLQCHLCFD QWDHTISSLS KAVQGLMRLA
ANMEDKRETL PVCEADFKDL RGNVSEIERI LKHPVFPSGK FLKVKDYHDS VRRQIMQLNE
QLKAVYEFQD LKDTIERAKN EADLLLEDLQ EEIDLQSSVL NASIADSSEN IKKYYHISSS
AEKKINETSS TINTSANTRN DLLTILDTLT SKGNLSLERL KQIKIPDIQI LNEKVCGDPG
NVPCVPLPCG GALCTGRKGH RKCRGPGCHG SLTLSTNALQ KAQEAKSIIR NLDKQVRGLK
NQIESISEQA EVSKNNALQL REKLGNIRNQ SDSEEENINL FIKKVKNFLL EENVPPEDIE
KVANGVLDIH LPIPSQNLTD ELVKIQKHMQ LCEDYRTDEN RLNEEADGAQ KLLVKAKAAE
KAANILLNLD KTLNQLQQAQ ITQGRANSTI TQLTANITKI KKNVLQAENQ TREMKSELEL
AKQRSGLEDG LSLLQTKLQR HQDHAVNAKV QAESAQHQAG SLEKEFVELK KQYAILQRKT
STTGLTKETL GKVKQLKDAA EKLAGDTEAK IRRITDLERK IQDLNLSRQA KADQLRILED
QVVAIKNEIV EQEKKYARCY S*
speed 1.34 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999546918 (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) chr7:107720162C>AN/A show variant in all transcripts   IGV
HGNC symbol LAMB4
Ensembl transcript ID ENST00000388781
Genbank transcript ID NM_007356
UniProt peptide A4D0S4
alteration type single base exchange
alteration region CDS
DNA changes c.1771G>T
cDNA.1855G>T
g.50640G>T
AA changes V591F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 591
frameshift no
known variant Reference ID: rs9690688
databasehomozygous (A/A)heterozygousallele carriers
1000G162538700
ExAC1186904710233
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0970
0.1560
(flanking)-0.4460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased50646wt: 0.44 / mu: 0.79wt: TTCCTGGGAACCCTGTTACATGGACTGGACCTGGATTTGCC
mu: TTCCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCC		 acat|GGAC
Acc gained506480.42mu: CCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCCAG atgg|ACTG
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      591VVLGEPVPGNPVTWTGPGFARVLP
mutated  not conserved    591VVLGEPVPGNPFTWTGPGFAR
Ptroglodytes  all identical  ENSPTRG00000019588  591VVLGEPVPGNPVTWSGPGFAR
Mmulatta  all identical  ENSMMUG00000021289  589IVLGEPVPGNPVTWTGPGFA
Fcatus  not conserved  ENSFCAG00000004479  531GVFREPVPGSPTAWTGPGFARVL
Mmusculus  no homologue    
Ggallus  all identical  ENSGALG00000007917  677VVFRQPSTGRAVTWTGPGFIRVP
Trubripes  all conserved  ENSTRUG00000008717  526LIIPRQRTAGQPITW
Drerio  all conserved  ENSDARG00000039133  675ILLRQRANDQSITWTGLGFVRVQ
Dmelanogaster  not conserved  FBgn0261800  613LVAETP----DGSFTGIGFTRVP
Celegans  not conserved  W03F8.5  621VKTREWPSQPHEQTFTGE
Xtropicalis  all conserved  ENSXETG00000033209  591VVLRQPTPRSDITWTGPGFAR
protein features
start (aa)end (aa)featuredetails 
545763DOMAINLaminin IV type B.lost
769769DISULFIDBy similarity.might get lost (downstream of altered splice site)
769816DOMAINLaminin EGF-like 6.might get lost (downstream of altered splice site)
771771DISULFIDBy similarity.might get lost (downstream of altered splice site)
781781DISULFIDBy similarity.might get lost (downstream of altered splice site)
788788DISULFIDBy similarity.might get lost (downstream of altered splice site)
790790DISULFIDBy similarity.might get lost (downstream of altered splice site)
799799DISULFIDBy similarity.might get lost (downstream of altered splice site)
802802DISULFIDBy similarity.might get lost (downstream of altered splice site)
814814DISULFIDBy similarity.might get lost (downstream of altered splice site)
817817DISULFIDBy similarity.might get lost (downstream of altered splice site)
817862DOMAINLaminin EGF-like 7.might get lost (downstream of altered splice site)
819819DISULFIDBy similarity.might get lost (downstream of altered splice site)
829829DISULFIDBy similarity.might get lost (downstream of altered splice site)
836836DISULFIDBy similarity.might get lost (downstream of altered splice site)
838838DISULFIDBy similarity.might get lost (downstream of altered splice site)
847847DISULFIDBy similarity.might get lost (downstream of altered splice site)
850850DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
863863DISULFIDBy similarity.might get lost (downstream of altered splice site)
863910DOMAINLaminin EGF-like 8.might get lost (downstream of altered splice site)
865865DISULFIDBy similarity.might get lost (downstream of altered splice site)
872872DISULFIDBy similarity.might get lost (downstream of altered splice site)
879879DISULFIDBy similarity.might get lost (downstream of altered splice site)
882882DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
894894DISULFIDBy similarity.might get lost (downstream of altered splice site)
908908DISULFIDBy similarity.might get lost (downstream of altered splice site)
911969DOMAINLaminin EGF-like 9.might get lost (downstream of altered splice site)
913913DISULFIDBy similarity.might get lost (downstream of altered splice site)
938938DISULFIDBy similarity.might get lost (downstream of altered splice site)
940940DISULFIDBy similarity.might get lost (downstream of altered splice site)
949949DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
967967DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
9701021DOMAINLaminin EGF-like 10.might get lost (downstream of altered splice site)
972972DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
991991DISULFIDBy similarity.might get lost (downstream of altered splice site)
994994DISULFIDBy similarity.might get lost (downstream of altered splice site)
10031003DISULFIDBy similarity.might get lost (downstream of altered splice site)
10061006DISULFIDBy similarity.might get lost (downstream of altered splice site)
10161016CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10191019DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221079DOMAINLaminin EGF-like 11.might get lost (downstream of altered splice site)
10241024DISULFIDBy similarity.might get lost (downstream of altered splice site)
10431043DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10521052DISULFIDBy similarity.might get lost (downstream of altered splice site)
10551055CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10611061DISULFIDBy similarity.might get lost (downstream of altered splice site)
10641064DISULFIDBy similarity.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801080DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801127DOMAINLaminin EGF-like 12.might get lost (downstream of altered splice site)
10821082DISULFIDBy similarity.might get lost (downstream of altered splice site)
10921092DISULFIDBy similarity.might get lost (downstream of altered splice site)
10991099DISULFIDBy similarity.might get lost (downstream of altered splice site)
11011101DISULFIDBy similarity.might get lost (downstream of altered splice site)
11101110DISULFIDBy similarity.might get lost (downstream of altered splice site)
11131113DISULFIDBy similarity.might get lost (downstream of altered splice site)
11251125DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281174DOMAINLaminin EGF-like 13.might get lost (downstream of altered splice site)
11301130DISULFIDBy similarity.might get lost (downstream of altered splice site)
11401140DISULFIDBy similarity.might get lost (downstream of altered splice site)
11471147DISULFIDBy similarity.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581158DISULFIDBy similarity.might get lost (downstream of altered splice site)
11611161DISULFIDBy similarity.might get lost (downstream of altered splice site)
11721172DISULFIDBy similarity.might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751375REGIONDomain II.might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
12231223CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12431301COILEDPotential.might get lost (downstream of altered splice site)
13011301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13261326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13331333CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13761408REGIONDomain alpha.might get lost (downstream of altered splice site)
14091761REGIONDomain I.might get lost (downstream of altered splice site)
14161480COILEDPotential.might get lost (downstream of altered splice site)
14691469CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15171517CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251759COILEDPotential.might get lost (downstream of altered splice site)
15421542CONFLICTL -> S (in Ref. 1; AAC95123).might get lost (downstream of altered splice site)
15871587CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15961596CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17251725CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5286 / 5286
position (AA) of stopcodon in wt / mu AA sequence 1762 / 1762
position of stopcodon in wt / mu cDNA 5370 / 5370
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 85 / 85
chromosome 7
strand -1
last intron/exon boundary 5231
theoretical NMD boundary in CDS 5096
length of CDS 5286
coding sequence (CDS) position 1771
cDNA position
(for ins/del: last normal base / first normal base)		 1855
gDNA position
(for ins/del: last normal base / first normal base)		 50640
chromosomal position
(for ins/del: last normal base / first normal base)		 107720162
original gDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered gDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
original cDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered cDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
wildtype AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP VTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSLG LIPQINSLEN
FCSKQDLDEY QLHNCVEIAS AMGPQVLPGA CERLIISMSA KLHDGAVACK CHPQGSVGSS
CSRLGGQCQC KPLVVGRCCD RCSTGSYDLG HHGCHPCHCH PQGSKDTVCD QVTGQCPCHG
EVSGRRCDRC LAGYFGFPSC HPCPCNRFAE LCDPETGSCF NCGGFTTGRN CERCIDGYYG
NPSSGQPCRP CLCPDDPSSN QYFAHSCYQN LWSSDVICNC LQGYTGTQCG ECSTGFYGNP
RISGAPCQPC ACNNNIDVTD PESCSRVTGE CLRCLHNTQG ANCQLCKPGH YGSALNQTCR
RCSCHASGVS PMECPPGGGA CLCDPVTGAC PCLPNVTGLA CDRCADGYWN LVPGRGCQSC
DCDPRTSQSS HCDQLTGQCP CKLGYGGKRC SECQENYYGD PPGRCIPCDC NRAGTQKPIC
DPDTGMCRCR EGVSGQRCDR CARGHSQEFP TCLQCHLCFD QWDHTISSLS KAVQGLMRLA
ANMEDKRETL PVCEADFKDL RGNVSEIERI LKHPVFPSGK FLKVKDYHDS VRRQIMQLNE
QLKAVYEFQD LKDTIERAKN EADLLLEDLQ EEIDLQSSVL NASIADSSEN IKKYYHISSS
AEKKINETSS TINTSANTRN DLLTILDTLT SKGNLSLERL KQIKIPDIQI LNEKVCGDPG
NVPCVPLPCG GALCTGRKGH RKCRGPGCHG SLTLSTNALQ KAQEAKSIIR NLDKQVRGLK
NQIESISEQA EVSKNNALQL REKLGNIRNQ SDSEEENINL FIKKVKNFLL EENVPPEDIE
KVANGVLDIH LPIPSQNLTD ELVKIQKHMQ LCEDYRTDEN RLNEEADGAQ KLLVKAKAAE
KAANILLNLD KTLNQLQQAQ ITQGRANSTI TQLTANITKI KKNVLQAENQ TREMKSELEL
AKQRSGLEDG LSLLQTKLQR HQDHAVNAKV QAESAQHQAG SLEKEFVELK KQYAILQRKT
STTGLTKETL GKVKQLKDAA EKLAGDTEAK IRRITDLERK IQDLNLSRQA KADQLRILED
QVVAIKNEIV EQEKKYARCY S*
mutated AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP FTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSLG LIPQINSLEN
FCSKQDLDEY QLHNCVEIAS AMGPQVLPGA CERLIISMSA KLHDGAVACK CHPQGSVGSS
CSRLGGQCQC KPLVVGRCCD RCSTGSYDLG HHGCHPCHCH PQGSKDTVCD QVTGQCPCHG
EVSGRRCDRC LAGYFGFPSC HPCPCNRFAE LCDPETGSCF NCGGFTTGRN CERCIDGYYG
NPSSGQPCRP CLCPDDPSSN QYFAHSCYQN LWSSDVICNC LQGYTGTQCG ECSTGFYGNP
RISGAPCQPC ACNNNIDVTD PESCSRVTGE CLRCLHNTQG ANCQLCKPGH YGSALNQTCR
RCSCHASGVS PMECPPGGGA CLCDPVTGAC PCLPNVTGLA CDRCADGYWN LVPGRGCQSC
DCDPRTSQSS HCDQLTGQCP CKLGYGGKRC SECQENYYGD PPGRCIPCDC NRAGTQKPIC
DPDTGMCRCR EGVSGQRCDR CARGHSQEFP TCLQCHLCFD QWDHTISSLS KAVQGLMRLA
ANMEDKRETL PVCEADFKDL RGNVSEIERI LKHPVFPSGK FLKVKDYHDS VRRQIMQLNE
QLKAVYEFQD LKDTIERAKN EADLLLEDLQ EEIDLQSSVL NASIADSSEN IKKYYHISSS
AEKKINETSS TINTSANTRN DLLTILDTLT SKGNLSLERL KQIKIPDIQI LNEKVCGDPG
NVPCVPLPCG GALCTGRKGH RKCRGPGCHG SLTLSTNALQ KAQEAKSIIR NLDKQVRGLK
NQIESISEQA EVSKNNALQL REKLGNIRNQ SDSEEENINL FIKKVKNFLL EENVPPEDIE
KVANGVLDIH LPIPSQNLTD ELVKIQKHMQ LCEDYRTDEN RLNEEADGAQ KLLVKAKAAE
KAANILLNLD KTLNQLQQAQ ITQGRANSTI TQLTANITKI KKNVLQAENQ TREMKSELEL
AKQRSGLEDG LSLLQTKLQR HQDHAVNAKV QAESAQHQAG SLEKEFVELK KQYAILQRKT
STTGLTKETL GKVKQLKDAA EKLAGDTEAK IRRITDLERK IQDLNLSRQA KADQLRILED
QVVAIKNEIV EQEKKYARCY S*
speed 1.46 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999546918 (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) chr7:107720162C>AN/A show variant in all transcripts   IGV
HGNC symbol LAMB4
Ensembl transcript ID ENST00000388780
Genbank transcript ID N/A
UniProt peptide A4D0S4
alteration type single base exchange
alteration region CDS
DNA changes c.1771G>T
cDNA.1855G>T
g.50640G>T
AA changes V591F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 591
frameshift no
known variant Reference ID: rs9690688
databasehomozygous (A/A)heterozygousallele carriers
1000G162538700
ExAC1186904710233
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0970
0.1560
(flanking)-0.4460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased50646wt: 0.44 / mu: 0.79wt: TTCCTGGGAACCCTGTTACATGGACTGGACCTGGATTTGCC
mu: TTCCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCC		 acat|GGAC
Acc gained506480.42mu: CCTGGGAACCCTTTTACATGGACTGGACCTGGATTTGCCAG atgg|ACTG
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      591VVLGEPVPGNPVTWTGPGFARVLP
mutated  not conserved    591VVLGEPVPGNPFTWTGPGFAR
Ptroglodytes  all identical  ENSPTRG00000019588  591VVLGEPVPGNPVTWSGPGFAR
Mmulatta  all identical  ENSMMUG00000021289  589IVLGEPVPGNPVTWTGPGFA
Fcatus  not conserved  ENSFCAG00000004479  531GVFREPVPGSPTAWTGPGFARVL
Mmusculus  no homologue    
Ggallus  all identical  ENSGALG00000007917  677VVFRQPSTGRAVTWTGPGFIRVP
Trubripes  all conserved  ENSTRUG00000008717  526LIIPRQRTAGQPITW
Drerio  all conserved  ENSDARG00000039133  675ILLRQRANDQSITWTGLGFVRVQ
Dmelanogaster  not conserved  FBgn0261800  613LVAETP----DGSFTGIGFTRVP
Celegans  not conserved  W03F8.5  621VKTREWPSQPHEQTFTGE
Xtropicalis  all conserved  ENSXETG00000033209  591VVLRQPTPRSDITWTGPGFAR
protein features
start (aa)end (aa)featuredetails 
545763DOMAINLaminin IV type B.lost
769769DISULFIDBy similarity.might get lost (downstream of altered splice site)
769816DOMAINLaminin EGF-like 6.might get lost (downstream of altered splice site)
771771DISULFIDBy similarity.might get lost (downstream of altered splice site)
781781DISULFIDBy similarity.might get lost (downstream of altered splice site)
788788DISULFIDBy similarity.might get lost (downstream of altered splice site)
790790DISULFIDBy similarity.might get lost (downstream of altered splice site)
799799DISULFIDBy similarity.might get lost (downstream of altered splice site)
802802DISULFIDBy similarity.might get lost (downstream of altered splice site)
814814DISULFIDBy similarity.might get lost (downstream of altered splice site)
817817DISULFIDBy similarity.might get lost (downstream of altered splice site)
817862DOMAINLaminin EGF-like 7.might get lost (downstream of altered splice site)
819819DISULFIDBy similarity.might get lost (downstream of altered splice site)
829829DISULFIDBy similarity.might get lost (downstream of altered splice site)
836836DISULFIDBy similarity.might get lost (downstream of altered splice site)
838838DISULFIDBy similarity.might get lost (downstream of altered splice site)
847847DISULFIDBy similarity.might get lost (downstream of altered splice site)
850850DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
863863DISULFIDBy similarity.might get lost (downstream of altered splice site)
863910DOMAINLaminin EGF-like 8.might get lost (downstream of altered splice site)
865865DISULFIDBy similarity.might get lost (downstream of altered splice site)
872872DISULFIDBy similarity.might get lost (downstream of altered splice site)
879879DISULFIDBy similarity.might get lost (downstream of altered splice site)
882882DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
894894DISULFIDBy similarity.might get lost (downstream of altered splice site)
908908DISULFIDBy similarity.might get lost (downstream of altered splice site)
911969DOMAINLaminin EGF-like 9.might get lost (downstream of altered splice site)
913913DISULFIDBy similarity.might get lost (downstream of altered splice site)
938938DISULFIDBy similarity.might get lost (downstream of altered splice site)
940940DISULFIDBy similarity.might get lost (downstream of altered splice site)
949949DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
967967DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
9701021DOMAINLaminin EGF-like 10.might get lost (downstream of altered splice site)
972972DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
991991DISULFIDBy similarity.might get lost (downstream of altered splice site)
994994DISULFIDBy similarity.might get lost (downstream of altered splice site)
10031003DISULFIDBy similarity.might get lost (downstream of altered splice site)
10061006DISULFIDBy similarity.might get lost (downstream of altered splice site)
10161016CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10191019DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221079DOMAINLaminin EGF-like 11.might get lost (downstream of altered splice site)
10241024DISULFIDBy similarity.might get lost (downstream of altered splice site)
10431043DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10521052DISULFIDBy similarity.might get lost (downstream of altered splice site)
10551055CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10611061DISULFIDBy similarity.might get lost (downstream of altered splice site)
10641064DISULFIDBy similarity.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801080DISULFIDBy similarity.might get lost (downstream of altered splice site)
10801127DOMAINLaminin EGF-like 12.might get lost (downstream of altered splice site)
10821082DISULFIDBy similarity.might get lost (downstream of altered splice site)
10921092DISULFIDBy similarity.might get lost (downstream of altered splice site)
10991099DISULFIDBy similarity.might get lost (downstream of altered splice site)
11011101DISULFIDBy similarity.might get lost (downstream of altered splice site)
11101110DISULFIDBy similarity.might get lost (downstream of altered splice site)
11131113DISULFIDBy similarity.might get lost (downstream of altered splice site)
11251125DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281174DOMAINLaminin EGF-like 13.might get lost (downstream of altered splice site)
11301130DISULFIDBy similarity.might get lost (downstream of altered splice site)
11401140DISULFIDBy similarity.might get lost (downstream of altered splice site)
11471147DISULFIDBy similarity.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581158DISULFIDBy similarity.might get lost (downstream of altered splice site)
11611161DISULFIDBy similarity.might get lost (downstream of altered splice site)
11721172DISULFIDBy similarity.might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751175DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11751375REGIONDomain II.might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
11781178DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
12231223CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12431301COILEDPotential.might get lost (downstream of altered splice site)
13011301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13261326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13331333CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13761408REGIONDomain alpha.might get lost (downstream of altered splice site)
14091761REGIONDomain I.might get lost (downstream of altered splice site)
14161480COILEDPotential.might get lost (downstream of altered splice site)
14691469CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15171517CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251759COILEDPotential.might get lost (downstream of altered splice site)
15421542CONFLICTL -> S (in Ref. 1; AAC95123).might get lost (downstream of altered splice site)
15871587CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15961596CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17251725CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
17591759DISULFIDInterchain (Probable).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5172 / 5172
position (AA) of stopcodon in wt / mu AA sequence 1724 / 1724
position of stopcodon in wt / mu cDNA 5256 / 5256
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 85 / 85
chromosome 7
strand -1
last intron/exon boundary 5231
theoretical NMD boundary in CDS 5096
length of CDS 5172
coding sequence (CDS) position 1771
cDNA position
(for ins/del: last normal base / first normal base)		 1855
gDNA position
(for ins/del: last normal base / first normal base)		 50640
chromosomal position
(for ins/del: last normal base / first normal base)		 107720162
original gDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered gDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
original cDNA sequence snippet AGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGA
altered cDNA sequence snippet AGCCAGTTCCTGGGAACCCTTTTACATGGACTGGACCTGGA
wildtype AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP VTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSLG LIPQINSLEN
FCSKQDLDEY QLHNCVEIAS AMGPQVLPGA CERLIISMSA KLHDGAVACK CHPQGSVGSS
CSRLGGQCQC KPLVVGRCCD RCSTGSYDLG HHGCHPCHCH PQGSKDTVCD QVTGQCPCHG
EVSGRRCDRC LAGYFGFPSC HPCPCNRFAE LCDPETGSCF NCGGFTTGRN CERCIDGYYG
NPSSGQPCRP CLCPDDPSSN QYFAHSCYQN LWSSDVICNC LQGYTGTQCG ECSTGFYGNP
RISGAPCQPC ACNNNIDVTD PESCSRVTGE CLRCLHNTQG ANCQLCKPGH YGSALNQTCR
RCSCHASGVS PMECPPGGGA CLCDPVTGAC PCLPNVTGLA CDRCADGYWN LVPGRGCQSC
DCDPRTSQSS HCDQLTGQCP CKLGYGGKRC SECQENYYGD PPGRCIPCDC NRAGTQKPIC
DPDTGMCRCR EGVSGQRCDR CARGHSQEFP TCLQCHLCFD QWDHTISSLS KAVQGLMRLA
ANMEDKRETL PVCEADFKDL RGNVSEIERI LKHPVFPSGK FLKVKDYHDS VRRQIMQLNE
QLKAVYEFQD LKDTIERAKN EADLLLEDLQ EEIDLQSSVL NASIADSSEN IKKYYHISSS
AEKKINETSS TINTSANTRN DLLTILDTLT SKGNLSLERL KQIKIPDIQI LNEKVCGDPG
NVPCVPLPCG GALCTGRKGH RKCRGPGCHG SLTLSTNALQ KAQEAKSIIR NLDKQVRGLK
NQIESISEQA EVSKNNALQL REKLGNIRNQ SDSEEENINL FIKKVKNFLL EENVPPEDIE
KVANGVLDIH LPIPSQNLTD ELVKIQKHMQ LCEDYRTDEN RLNEEADGAQ KLLVKAKAAE
KAANILLNLD KTLNQLQQAQ ITQGRANSTI TQLTANITKI KKNVLQAENQ TREMKSELEL
AKQRSGLEDG LSLLQTKLQR HQDHAVNAKV QAESAQHQAG SLEKEFVELK KQYAILQRKT
STTGLTKETL GKVKQLKDAA EKLAGDTEAK IRRITGCFQN SAR*
mutated AA sequence MQFQLTLFLH LGWLSYSKAQ DDCNRGACHP TTGDLLVGRN TQLMASSTCG LSRAQKYCIL
SYLEGEQKCF ICDSRFPYDP YDQPNSHTIE NVIVSFEPDR EKKWWQSENG LDHVSIRLDL
EALFRFSHLI LTFKTFRPAA MLVERSTDYG HNWKVFKYFA KDCATSFPNI TSGQAQGVGD
IVCDSKYSDI EPSTGGEVVL KVLDPSFEIE NPYSPYIQDL VTLTNLRINF TKLHTLGDAL
LGRRQNDSLD KYYYALYEMI VRGSCFCNGH ASECRPMQKM RGDVFSPPGM VHGQCVCQHN
TDGPNCERCK DFFQDAPWRP AADLQDNACR SCSCNSHSSR CHFDMTTYLA SGGLSGGVCE
DCQHNTEGQH CDRCRPLFYR DPLKTISDPY ACIPCECDPD GTISGGICVS HSDPALGSVA
GQCLCKENVE GAKCDQCKPN HYGLSATDPL GCQPCDCNPL GSLPFLTCDV DTGQCLCLSY
VTGAHCEECT VGYWGLGNHL HGCSPCDCDI GGAYSNVCSP KNGQCECRPH VTGRSCSEPA
PGYFFAPLNF YLYEAEEATT LQGLAPLGSE TFGQSPAVHV VLGEPVPGNP FTWTGPGFAR
VLPGAGLRFA VNNIPFPVDF TIAIHYETQS AADWTVQIVV NPPGGSEHCI PKTLQSKPQS
FALPAATRIM LLPTPICLEP DVQYSIDVYF SQPLQGESHA HSHVLVDSLG LIPQINSLEN
FCSKQDLDEY QLHNCVEIAS AMGPQVLPGA CERLIISMSA KLHDGAVACK CHPQGSVGSS
CSRLGGQCQC KPLVVGRCCD RCSTGSYDLG HHGCHPCHCH PQGSKDTVCD QVTGQCPCHG
EVSGRRCDRC LAGYFGFPSC HPCPCNRFAE LCDPETGSCF NCGGFTTGRN CERCIDGYYG
NPSSGQPCRP CLCPDDPSSN QYFAHSCYQN LWSSDVICNC LQGYTGTQCG ECSTGFYGNP
RISGAPCQPC ACNNNIDVTD PESCSRVTGE CLRCLHNTQG ANCQLCKPGH YGSALNQTCR
RCSCHASGVS PMECPPGGGA CLCDPVTGAC PCLPNVTGLA CDRCADGYWN LVPGRGCQSC
DCDPRTSQSS HCDQLTGQCP CKLGYGGKRC SECQENYYGD PPGRCIPCDC NRAGTQKPIC
DPDTGMCRCR EGVSGQRCDR CARGHSQEFP TCLQCHLCFD QWDHTISSLS KAVQGLMRLA
ANMEDKRETL PVCEADFKDL RGNVSEIERI LKHPVFPSGK FLKVKDYHDS VRRQIMQLNE
QLKAVYEFQD LKDTIERAKN EADLLLEDLQ EEIDLQSSVL NASIADSSEN IKKYYHISSS
AEKKINETSS TINTSANTRN DLLTILDTLT SKGNLSLERL KQIKIPDIQI LNEKVCGDPG
NVPCVPLPCG GALCTGRKGH RKCRGPGCHG SLTLSTNALQ KAQEAKSIIR NLDKQVRGLK
NQIESISEQA EVSKNNALQL REKLGNIRNQ SDSEEENINL FIKKVKNFLL EENVPPEDIE
KVANGVLDIH LPIPSQNLTD ELVKIQKHMQ LCEDYRTDEN RLNEEADGAQ KLLVKAKAAE
KAANILLNLD KTLNQLQQAQ ITQGRANSTI TQLTANITKI KKNVLQAENQ TREMKSELEL
AKQRSGLEDG LSLLQTKLQR HQDHAVNAKV QAESAQHQAG SLEKEFVELK KQYAILQRKT
STTGLTKETL GKVKQLKDAA EKLAGDTEAK IRRITGCFQN SAR*
speed 1.35 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

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