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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000265417
Querying Taster for transcript #2: ENST00000452370
Querying Taster for transcript #3: ENST00000283296
Querying Taster for transcript #4: ENST00000362015
Querying Taster for transcript #5: ENST00000456426
Querying Taster for transcript #6: ENST00000545669
MT speed 0 s - this script 3.88436 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADGRF5polymorphism_automatic2.70791281089533e-05simple_aaeaffectedM856Tsingle base exchangers547499show file
ADGRF5polymorphism_automatic2.70791281089533e-05simple_aaeaffectedM856Tsingle base exchangers547499show file
ADGRF5polymorphism_automatic2.70791281089533e-05simple_aaeaffectedM856Tsingle base exchangers547499show file
ADGRF5polymorphism_automatic2.70791281089533e-05simple_aaeaffectedM856Tsingle base exchangers547499show file
ADGRF5polymorphism_automatic2.70791281089533e-05simple_aaeaffectedM714Tsingle base exchangers547499show file
ADGRF5polymorphism_automatic4.4966751372999e-05simple_aaeaffectedM285Tsingle base exchangers547499show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999972920871891 (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) chr6:46827073A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF5
Ensembl transcript ID ENST00000265417
Genbank transcript ID N/A
UniProt peptide Q8IZF2
alteration type single base exchange
alteration region CDS
DNA changes c.2567T>C
cDNA.2777T>C
g.95608T>C
AA changes M856T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 856
frameshift no
known variant Reference ID: rs547499
databasehomozygous (G/G)heterozygousallele carriers
1000G7799981777
ExAC26418-200696349
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5030.001
0.9230.276
(flanking)0.6680.396
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased95612wt: 0.9673 / mu: 0.9937 (marginal change - not scored)wt: ATGGTAATCAAGTCC
mu: ACGGTAATCAAGTCC		 GGTA|atca
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
Donor increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      856SFSQTNVQMSSMVIKSSHPETYQQ
mutated  not conserved    856SFSQTNVQMSSTVIKSSHPETYQ
Ptroglodytes  all identical  ENSPTRG00000018240  856SFSQTNVQMSSMVIKSSHPKTYQ
Mmulatta  all identical  ENSMMUG00000023002  852SFFRTNVQMSSMVIKSSHPKTYQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056492  855FLAHPNVQMKSMVIKRGHPQIYQ
Ggallus  all identical  ENSGALG00000016718  798HLSTETLELQGMVVTEHSHADYN
Trubripes  not conserved  ENSTRUG00000017329  1199EIVTERIKLN----KTSFDTS
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221006TOPO_DOMExtracellular (Potential).lost
931931CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9511002DOMAINGPS.might get lost (downstream of altered splice site)
963963CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
982982CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
990991SITECleavage (By similarity).might get lost (downstream of altered splice site)
10071027TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
10281053TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10541074TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
10751075CONFLICTQ -> R (in Ref. 5; AL832125).might get lost (downstream of altered splice site)
10751090TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10911111TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
11121128TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
11501173TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
11951220TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12211241TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
12421244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
12451265TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
12661346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4041 / 4041
position (AA) of stopcodon in wt / mu AA sequence 1347 / 1347
position of stopcodon in wt / mu cDNA 4251 / 4251
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 211 / 211
chromosome 6
strand -1
last intron/exon boundary 4172
theoretical NMD boundary in CDS 3911
length of CDS 4041
coding sequence (CDS) position 2567
cDNA position
(for ins/del: last normal base / first normal base)		 2777
gDNA position
(for ins/del: last normal base / first normal base)		 95608
chromosomal position
(for ins/del: last normal base / first normal base)		 46827073
original gDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered gDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
original cDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered cDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
wildtype AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSMVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKVQEALLNK FSLSRWSSQH SKSTSLGSST PVFSMSSPIS RRFNNLFGKT
GTYNVSTPEA TSSSLENSSS ASSLLN*
mutated AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSTVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKVQEALLNK FSLSRWSSQH SKSTSLGSST PVFSMSSPIS RRFNNLFGKT
GTYNVSTPEA TSSSLENSSS ASSLLN*
speed 0.62 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: 0.999972920871891 (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) chr6:46827073A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF5
Ensembl transcript ID ENST00000452370
Genbank transcript ID NM_015234
UniProt peptide Q8IZF2
alteration type single base exchange
alteration region CDS
DNA changes c.2567T>C
cDNA.2796T>C
g.95608T>C
AA changes M856T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 856
frameshift no
known variant Reference ID: rs547499
databasehomozygous (G/G)heterozygousallele carriers
1000G7799981777
ExAC26418-200696349
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5030.001
0.9230.276
(flanking)0.6680.396
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased95612wt: 0.9673 / mu: 0.9937 (marginal change - not scored)wt: ATGGTAATCAAGTCC
mu: ACGGTAATCAAGTCC		 GGTA|atca
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
Donor increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      856SFSQTNVQMSSMVIKSSHPETYQQ
mutated  not conserved    856SFSQTNVQMSSTVIKSSHPETYQ
Ptroglodytes  all identical  ENSPTRG00000018240  856SFSQTNVQMSSMVIKSSHPKTYQ
Mmulatta  all identical  ENSMMUG00000023002  852SFFRTNVQMSSMVIKSSHPKTYQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056492  855FLAHPNVQMKSMVIKRGHPQIYQ
Ggallus  all identical  ENSGALG00000016718  798HLSTETLELQGMVVTEHSHADYN
Trubripes  not conserved  ENSTRUG00000017329  1199EIVTERIKLN----KTSFDTS
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221006TOPO_DOMExtracellular (Potential).lost
931931CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9511002DOMAINGPS.might get lost (downstream of altered splice site)
963963CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
982982CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
990991SITECleavage (By similarity).might get lost (downstream of altered splice site)
10071027TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
10281053TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10541074TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
10751075CONFLICTQ -> R (in Ref. 5; AL832125).might get lost (downstream of altered splice site)
10751090TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10911111TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
11121128TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
11501173TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
11951220TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12211241TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
12421244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
12451265TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
12661346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4041 / 4041
position (AA) of stopcodon in wt / mu AA sequence 1347 / 1347
position of stopcodon in wt / mu cDNA 4270 / 4270
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 230 / 230
chromosome 6
strand -1
last intron/exon boundary 4191
theoretical NMD boundary in CDS 3911
length of CDS 4041
coding sequence (CDS) position 2567
cDNA position
(for ins/del: last normal base / first normal base)		 2796
gDNA position
(for ins/del: last normal base / first normal base)		 95608
chromosomal position
(for ins/del: last normal base / first normal base)		 46827073
original gDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered gDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
original cDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered cDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
wildtype AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSMVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKVQEALLNK FSLSRWSSQH SKSTSLGSST PVFSMSSPIS RRFNNLFGKT
GTYNVSTPEA TSSSLENSSS ASSLLN*
mutated AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSTVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKVQEALLNK FSLSRWSSQH SKSTSLGSST PVFSMSSPIS RRFNNLFGKT
GTYNVSTPEA TSSSLENSSS ASSLLN*
speed 0.85 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: 0.999972920871891 (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) chr6:46827073A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF5
Ensembl transcript ID ENST00000283296
Genbank transcript ID NM_001098518
UniProt peptide Q8IZF2
alteration type single base exchange
alteration region CDS
DNA changes c.2567T>C
cDNA.2856T>C
g.95608T>C
AA changes M856T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 856
frameshift no
known variant Reference ID: rs547499
databasehomozygous (G/G)heterozygousallele carriers
1000G7799981777
ExAC26418-200696349
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5030.001
0.9230.276
(flanking)0.6680.396
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased95612wt: 0.9673 / mu: 0.9937 (marginal change - not scored)wt: ATGGTAATCAAGTCC
mu: ACGGTAATCAAGTCC		 GGTA|atca
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
Donor increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      856SFSQTNVQMSSMVIKSSHPETYQQ
mutated  not conserved    856SFSQTNVQMSSTVIKSSHPETYQ
Ptroglodytes  all identical  ENSPTRG00000018240  856SFSQTNVQMSSMVIKSSHPKTYQ
Mmulatta  all identical  ENSMMUG00000023002  852SFFRTNVQMSSMVIKSSHPKTYQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056492  855FLAHPNVQMKSMVIKRGHPQIYQ
Ggallus  all identical  ENSGALG00000016718  798HLSTETLELQGMVVTEHSHADYN
Trubripes  not conserved  ENSTRUG00000017329  1199EIVTERIKLN----KTSFDTS
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221006TOPO_DOMExtracellular (Potential).lost
931931CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9511002DOMAINGPS.might get lost (downstream of altered splice site)
963963CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
982982CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
990991SITECleavage (By similarity).might get lost (downstream of altered splice site)
10071027TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
10281053TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10541074TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
10751075CONFLICTQ -> R (in Ref. 5; AL832125).might get lost (downstream of altered splice site)
10751090TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10911111TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
11121128TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
11501173TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
11951220TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12211241TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
12421244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
12451265TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
12661346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4041 / 4041
position (AA) of stopcodon in wt / mu AA sequence 1347 / 1347
position of stopcodon in wt / mu cDNA 4330 / 4330
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 290 / 290
chromosome 6
strand -1
last intron/exon boundary 4251
theoretical NMD boundary in CDS 3911
length of CDS 4041
coding sequence (CDS) position 2567
cDNA position
(for ins/del: last normal base / first normal base)		 2856
gDNA position
(for ins/del: last normal base / first normal base)		 95608
chromosomal position
(for ins/del: last normal base / first normal base)		 46827073
original gDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered gDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
original cDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered cDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
wildtype AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSMVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKVQEALLNK FSLSRWSSQH SKSTSLGSST PVFSMSSPIS RRFNNLFGKT
GTYNVSTPEA TSSSLENSSS ASSLLN*
mutated AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSTVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKVQEALLNK FSLSRWSSQH SKSTSLGSST PVFSMSSPIS RRFNNLFGKT
GTYNVSTPEA TSSSLENSSS ASSLLN*
speed 0.61 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: 0.999972920871891 (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) chr6:46827073A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF5
Ensembl transcript ID ENST00000362015
Genbank transcript ID N/A
UniProt peptide Q8IZF2
alteration type single base exchange
alteration region CDS
DNA changes c.2567T>C
cDNA.2856T>C
g.95608T>C
AA changes M856T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 856
frameshift no
known variant Reference ID: rs547499
databasehomozygous (G/G)heterozygousallele carriers
1000G7799981777
ExAC26418-200696349
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5030.001
0.9230.276
(flanking)0.6680.396
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased95612wt: 0.9673 / mu: 0.9937 (marginal change - not scored)wt: ATGGTAATCAAGTCC
mu: ACGGTAATCAAGTCC		 GGTA|atca
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
Donor increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      856SFSQTNVQMSSMVIKSSHPETYQQ
mutated  not conserved    856SFSQTNVQMSSTVIKSSHPETYQ
Ptroglodytes  all identical  ENSPTRG00000018240  856SFSQTNVQMSSMVIKSSHPKTYQ
Mmulatta  all identical  ENSMMUG00000023002  852SFFRTNVQMSSMVIKSSHPKTYQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056492  855FLAHPNVQMKSMVIKRGHPQIYQ
Ggallus  all identical  ENSGALG00000016718  798HLSTETLELQGMVVTEHSHADYN
Trubripes  not conserved  ENSTRUG00000017329  1199EIVTERIKLN----KTSFDTS
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221006TOPO_DOMExtracellular (Potential).lost
931931CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9511002DOMAINGPS.might get lost (downstream of altered splice site)
963963CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
982982CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
990991SITECleavage (By similarity).might get lost (downstream of altered splice site)
10071027TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
10281053TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10541074TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
10751075CONFLICTQ -> R (in Ref. 5; AL832125).might get lost (downstream of altered splice site)
10751090TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10911111TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
11121128TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
11501173TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
11951220TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12211241TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
12421244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
12451265TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
12661346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3981 / 3981
position (AA) of stopcodon in wt / mu AA sequence 1327 / 1327
position of stopcodon in wt / mu cDNA 4270 / 4270
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 290 / 290
chromosome 6
strand -1
last intron/exon boundary 4191
theoretical NMD boundary in CDS 3851
length of CDS 3981
coding sequence (CDS) position 2567
cDNA position
(for ins/del: last normal base / first normal base)		 2856
gDNA position
(for ins/del: last normal base / first normal base)		 95608
chromosomal position
(for ins/del: last normal base / first normal base)		 46827073
original gDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered gDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
original cDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered cDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
wildtype AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSMVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKSTSLGSST PVFSMSSPIS RRFNNLFGKT GTYNVSTPEA TSSSLENSSS
ASSLLN*
mutated AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT INESNFFVTP EIIFEGDTVS LVCEKEVLSS
NVSWRYEEQQ LEIQNSSRFS IYTALFNNMT SVSKLTIHNI TPGDAGEYVC KLILDIFEYE
CKKKIDVMPI QILANEEMKV MCDNNPVSLN CCSQGNVNWS KVEWKQEGKI NIPGTPETDI
DSSCSRYTLK ADGTQCPSGS SGTTVIYTCE FISAYGARGS ANIKVTFISV ANLTITPDPI
SVSEGQNFSI KCISDVSNYD EVYWNTSAGI KIYQRFYTTR RYLDGAESVL TVKTSTREWN
GTYHCIFRYK NSYSIATKDV IVHPLPLKLN IMVDPLEATV SCSGSHHIKC CIEEDGDYKV
TFHTGSSSLP AAKEVNKKQV CYKHNFNASS VSWCSKTVDV CCHFTNAANN SVWSPSMKLN
LVPGENITCQ DPVIGVGEPG KVIQKLCRFS NVPSSPESPI GGTITYKCVG SQWEEKRNDC
ISAPINSLLQ MAKALIKSPS QDEMLPTYLK DLSISIDKAE HEISSSPGSL GAIINILDLL
STVPTQVNSE MMTHVLSTVN VILGKPVLNT WKVLQQQWTN QSSQLLHSVE RFSQALQSGD
SPPLSFSQTN VQMSSTVIKS SHPETYQQRF VFPYFDLWGN VVIDKSYLEN LQSDSSIVTM
AFPTLQAILA QDIQENNFAE SLVMTTTVSH NTTMPFRISM TFKNNSPSGG ETKCVFWNFR
LANNTGGWDS SGCYVEEGDG DNVTCICDHL TSFSILMSPD SPDPSSLLGI LLDIISYVGV
GFSILSLAAC LVVEAVVWKS VTKNRTSYMR HTCIVNIAAS LLVANTWFIV VAAIQDNRYI
LCKTACVAAT FFIHFFYLSV FFWMLTLGLM LFYRLVFILH ETSRSTQKAI AFCLGYGCPL
AISVITLGAT QPREVYTRKN VCWLNWEDTK ALLAFAIPAL IIVVVNITIT IVVITKILRP
SIGDKPCKQE KSSLFQISKS IGVLTPLLGL TWGFGLTTVF PGTNLVFHII FAILNVFQGL
FILLFGCLWD LKSTSLGSST PVFSMSSPIS RRFNNLFGKT GTYNVSTPEA TSSSLENSSS
ASSLLN*
speed 0.33 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: 0.999972920871891 (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) chr6:46827073A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF5
Ensembl transcript ID ENST00000456426
Genbank transcript ID N/A
UniProt peptide Q8IZF2
alteration type single base exchange
alteration region CDS
DNA changes c.2141T>C
cDNA.2430T>C
g.95608T>C
AA changes M714T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 714
frameshift no
known variant Reference ID: rs547499
databasehomozygous (G/G)heterozygousallele carriers
1000G7799981777
ExAC26418-200696349
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5030.001
0.9230.276
(flanking)0.6680.396
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased95612wt: 0.9673 / mu: 0.9937 (marginal change - not scored)wt: ATGGTAATCAAGTCC
mu: ACGGTAATCAAGTCC		 GGTA|atca
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
Donor increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      714SFSQTNVQMSSMVIKSSHPETYQQ
mutated  not conserved    714SFSQTNVQMSSTVIKSSH
Ptroglodytes  all identical  ENSPTRG00000018240  856SFSQTNVQMSSMVIKSSHPKTYQ
Mmulatta  all identical  ENSMMUG00000023002  852SFFRTNVQMSSMVIKSSHPKTYQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056492  855FLAHPNVQMKSMVIKRGHPQIYQ
Ggallus  all identical  ENSGALG00000016718  798HLSTETLELQGMVVTEHSHADYN
Trubripes  not conserved  ENSTRUG00000017329  1196VTERIKLN----KTSFDTSFA
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221006TOPO_DOMExtracellular (Potential).lost
820820CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
931931CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9511002DOMAINGPS.might get lost (downstream of altered splice site)
963963CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
982982CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
990991SITECleavage (By similarity).might get lost (downstream of altered splice site)
10071027TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
10281053TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10541074TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
10751075CONFLICTQ -> R (in Ref. 5; AL832125).might get lost (downstream of altered splice site)
10751090TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10911111TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
11121128TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
11501173TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
11951220TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12211241TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
12421244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
12451265TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
12661346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3615 / 3615
position (AA) of stopcodon in wt / mu AA sequence 1205 / 1205
position of stopcodon in wt / mu cDNA 3904 / 3904
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 290 / 290
chromosome 6
strand -1
last intron/exon boundary 3825
theoretical NMD boundary in CDS 3485
length of CDS 3615
coding sequence (CDS) position 2141
cDNA position
(for ins/del: last normal base / first normal base)		 2430
gDNA position
(for ins/del: last normal base / first normal base)		 95608
chromosomal position
(for ins/del: last normal base / first normal base)		 46827073
original gDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered gDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
original cDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered cDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
wildtype AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT IRTPETDIDS SCSRYTLKAD GTQCPSGSSG
TTVIYTCEFI SAYGARGSAN IKVTFISVAN LTITPDPISV SEGQNFSIKC ISDVSNYDEV
YWNTSAGIKI YQRFYTTRRY LDGAESVLTV KTSTREWNGT YHCIFRYKNS YSIATKDVIV
HPLPLKLNIM VDPLEATVSC SGSHHIKCCI EEDGDYKVTF HTGSSSLPAA KEVNKKQVCY
KHNFNASSVS WCSKTVDVCC HFTNAANNSV WSPSMKLNLV PGENITCQDP VIGVGEPGKV
IQKLCRFSNV PSSPESPIGG TITYKCVGSQ WEEKRNDCIS APINSLLQMA KALIKSPSQD
EMLPTYLKDL SISIDKAEHE ISSSPGSLGA IINILDLLST VPTQVNSEMM THVLSTVNVI
LGKPVLNTWK VLQQQWTNQS SQLLHSVERF SQALQSGDSP PLSFSQTNVQ MSSMVIKSSH
PETYQQRFVF PYFDLWGNVV IDKSYLENLQ SDSSIVTMAF PTLQAILAQD IQENNFAESL
VMTTTVSHNT TMPFRISMTF KNNSPSGGET KCVFWNFRLA NNTGGWDSSG CYVEEGDGDN
VTCICDHLTS FSILMSPDSP DPSSLLGILL DIISYVGVGF SILSLAACLV VEAVVWKSVT
KNRTSYMRHT CIVNIAASLL VANTWFIVVA AIQDNRYILC KTACVAATFF IHFFYLSVFF
WMLTLGLMLF YRLVFILHET SRSTQKAIAF CLGYGCPLAI SVITLGATQP REVYTRKNVC
WLNWEDTKAL LAFAIPALII VVVNITITIV VITKILRPSI GDKPCKQEKS SLFQISKSIG
VLTPLLGLTW GFGLTTVFPG TNLVFHIIFA ILNVFQGLFI LLFGCLWDLK VQEALLNKFS
LSRWSSQHSK STSLGSSTPV FSMSSPISRR FNNLFGKTGT YNVSTPEATS SSLENSSSAS
SLLN*
mutated AA sequence MKSPRRTTLC LMFIVIYSSK AALNWNYEST IHPLSLHEHE PAGEEALRQK RAVATKSPTA
EEYTVNIEIS FENASFLDPI KAYLNSLSFP IHGNNTDQIT DILSINVTTV CRPAGNEIWC
SCETGYGWPR ERCLHNLICQ ERDVFLPGHH CSCLKELPPN GPFCLLQEDV TLNMRVRLNV
GFQEDLMNTS SALYRSYKTD LETAFRKGYG ILPGFKGVTV TGFKSGSVVV TYEVKTTPPS
LELIHKANEQ VVQSLNQTYK MDYNSFQAVT IRTPETDIDS SCSRYTLKAD GTQCPSGSSG
TTVIYTCEFI SAYGARGSAN IKVTFISVAN LTITPDPISV SEGQNFSIKC ISDVSNYDEV
YWNTSAGIKI YQRFYTTRRY LDGAESVLTV KTSTREWNGT YHCIFRYKNS YSIATKDVIV
HPLPLKLNIM VDPLEATVSC SGSHHIKCCI EEDGDYKVTF HTGSSSLPAA KEVNKKQVCY
KHNFNASSVS WCSKTVDVCC HFTNAANNSV WSPSMKLNLV PGENITCQDP VIGVGEPGKV
IQKLCRFSNV PSSPESPIGG TITYKCVGSQ WEEKRNDCIS APINSLLQMA KALIKSPSQD
EMLPTYLKDL SISIDKAEHE ISSSPGSLGA IINILDLLST VPTQVNSEMM THVLSTVNVI
LGKPVLNTWK VLQQQWTNQS SQLLHSVERF SQALQSGDSP PLSFSQTNVQ MSSTVIKSSH
PETYQQRFVF PYFDLWGNVV IDKSYLENLQ SDSSIVTMAF PTLQAILAQD IQENNFAESL
VMTTTVSHNT TMPFRISMTF KNNSPSGGET KCVFWNFRLA NNTGGWDSSG CYVEEGDGDN
VTCICDHLTS FSILMSPDSP DPSSLLGILL DIISYVGVGF SILSLAACLV VEAVVWKSVT
KNRTSYMRHT CIVNIAASLL VANTWFIVVA AIQDNRYILC KTACVAATFF IHFFYLSVFF
WMLTLGLMLF YRLVFILHET SRSTQKAIAF CLGYGCPLAI SVITLGATQP REVYTRKNVC
WLNWEDTKAL LAFAIPALII VVVNITITIV VITKILRPSI GDKPCKQEKS SLFQISKSIG
VLTPLLGLTW GFGLTTVFPG TNLVFHIIFA ILNVFQGLFI LLFGCLWDLK VQEALLNKFS
LSRWSSQHSK STSLGSSTPV FSMSSPISRR FNNLFGKTGT YNVSTPEATS SSLENSSSAS
SLLN*
speed 0.60 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999955033248627 (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) chr6:46827073A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF5
Ensembl transcript ID ENST00000545669
Genbank transcript ID N/A
UniProt peptide Q8IZF2
alteration type single base exchange
alteration region CDS
DNA changes c.854T>C
cDNA.1179T>C
g.95608T>C
AA changes M285T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 285
frameshift no
known variant Reference ID: rs547499
databasehomozygous (G/G)heterozygousallele carriers
1000G7799981777
ExAC26418-200696349
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5030.001
0.9230.276
(flanking)0.6680.396
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased95612wt: 0.9673 / mu: 0.9937 (marginal change - not scored)wt: ATGGTAATCAAGTCC
mu: ACGGTAATCAAGTCC		 GGTA|atca
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
Donor increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      285SFSQTNVQMSSMVIKSSHPETYQQ
mutated  not conserved    285SFSQTNVQMSSTVIKSSHPETYQ
Ptroglodytes  all identical  ENSPTRG00000018240  856SFSQTNVQMSSMVIKSSHPKTYQ
Mmulatta  all identical  ENSMMUG00000023002  852SFFRTNVQMSSMVIKSSHPKTYQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056492  855FLAHPNVQMKSMVIKRGHPQIYQ
Ggallus  all identical  ENSGALG00000016718  798HLSTETLELQGMVVTEHSHADYN
Trubripes  not conserved  ENSTRUG00000017329  1200EIVTERIKLN----KTSFDTSFA
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221006TOPO_DOMExtracellular (Potential).lost
267368DOMAINIg-like 1.lost
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
369466DOMAINIg-like 2.might get lost (downstream of altered splice site)
398398CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
471561DOMAINIg-like 3.might get lost (downstream of altered splice site)
472472CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
487487CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
505505CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
540540CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
573573CONFLICTV -> I (in Ref. 7; CAB43394).might get lost (downstream of altered splice site)
627627CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
649649CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
666666CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
820820CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
931931CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9511002DOMAINGPS.might get lost (downstream of altered splice site)
963963CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
982982CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
990991SITECleavage (By similarity).might get lost (downstream of altered splice site)
10071027TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
10281053TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10541074TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
10751075CONFLICTQ -> R (in Ref. 5; AL832125).might get lost (downstream of altered splice site)
10751090TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10911111TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
11121128TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
11501173TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
11951220TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12211241TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
12421244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
12451265TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
12661346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2313 / 2313
position (AA) of stopcodon in wt / mu AA sequence 771 / 771
position of stopcodon in wt / mu cDNA 2638 / 2638
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 326 / 326
chromosome 6
strand -1
last intron/exon boundary 2641
theoretical NMD boundary in CDS 2265
length of CDS 2313
coding sequence (CDS) position 854
cDNA position
(for ins/del: last normal base / first normal base)		 1179
gDNA position
(for ins/del: last normal base / first normal base)		 95608
chromosomal position
(for ins/del: last normal base / first normal base)		 46827073
original gDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered gDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
original cDNA sequence snippet TAATGTGCAGATGAGCAGCATGGTAATCAAGTCCAGCCACC
altered cDNA sequence snippet TAATGTGCAGATGAGCAGCACGGTAATCAAGTCCAGCCACC
wildtype AA sequence MVDPLEATVS CSGSHHIKCC IEEDGDYKVT FHTGSSSLPA AKEVNKKQVC YKHNFNASSV
SWCSKTVDVC CHFTNAANNS VWSPSMKLNL VPGENITCQD PVIGVGEPGK VIQKLCRFSN
VPSSPESPIG GTITYKCVGS QWEEKRNDCI SAPINSLLQM AKALIKSPSQ DEMLPTYLKD
LSISIDKAEH EISSSPGSLG AIINILDLLS TVPTQVNSEM MTHVLSTVNV ILGKPVLNTW
KVLQQQWTNQ SSQLLHSVER FSQALQSGDS PPLSFSQTNV QMSSMVIKSS HPETYQQRFV
FPYFDLWGNV VIDKSYLENL QSDSSIVTMA FPTLQAILAQ DIQENNFAES LVMTTTVSHN
TTMPFRISMT FKNNSPSGGE TKCVFWNFRL ANNTGGWDSS GCYVEEGDGD NVTCICDHLT
SFSILMSPDS PDPSSLLGIL LDIISYVGVG FSILSLAACL VVEAVVWKSV TKNRTSYMRH
TCIVNIAASL LVANTWFIVV AAIQDNRYIL CKTACVAATF FIHFFYLSVF FWMLTLGLML
FYRLVFILHE TSRSTQKAIA FCLGYGCPLA ISVITLGATQ PREVYTRKNV CWLNWEDTKA
LLAFAIPALI IVVVNITITI VVITKILRPS IGDKPCKQEK SSLFQISKSI GVLTPLLGLT
WGFGLTTVFP GTNLVFHIIF AILNVFQGLF ILLFGCLWDL KVQEALLNKF SLSRWSSQHS
KSTSLGSSTP VFSMSSPISR RFNNLFGKTA APKIPPGHDG NLVSGGSSAI *
mutated AA sequence MVDPLEATVS CSGSHHIKCC IEEDGDYKVT FHTGSSSLPA AKEVNKKQVC YKHNFNASSV
SWCSKTVDVC CHFTNAANNS VWSPSMKLNL VPGENITCQD PVIGVGEPGK VIQKLCRFSN
VPSSPESPIG GTITYKCVGS QWEEKRNDCI SAPINSLLQM AKALIKSPSQ DEMLPTYLKD
LSISIDKAEH EISSSPGSLG AIINILDLLS TVPTQVNSEM MTHVLSTVNV ILGKPVLNTW
KVLQQQWTNQ SSQLLHSVER FSQALQSGDS PPLSFSQTNV QMSSTVIKSS HPETYQQRFV
FPYFDLWGNV VIDKSYLENL QSDSSIVTMA FPTLQAILAQ DIQENNFAES LVMTTTVSHN
TTMPFRISMT FKNNSPSGGE TKCVFWNFRL ANNTGGWDSS GCYVEEGDGD NVTCICDHLT
SFSILMSPDS PDPSSLLGIL LDIISYVGVG FSILSLAACL VVEAVVWKSV TKNRTSYMRH
TCIVNIAASL LVANTWFIVV AAIQDNRYIL CKTACVAATF FIHFFYLSVF FWMLTLGLML
FYRLVFILHE TSRSTQKAIA FCLGYGCPLA ISVITLGATQ PREVYTRKNV CWLNWEDTKA
LLAFAIPALI IVVVNITITI VVITKILRPS IGDKPCKQEK SSLFQISKSI GVLTPLLGLT
WGFGLTTVFP GTNLVFHIIF AILNVFQGLF ILLFGCLWDL KVQEALLNKF SLSRWSSQHS
KSTSLGSSTP VFSMSSPISR RFNNLFGKTA APKIPPGHDG NLVSGGSSAI *
speed 0.39 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
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