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 increased95608wt: 0.85 / mu: 0.94wt: CAGCATGGTAATCAA
mu: CAGCACGGTAATCAA		 GCAT|ggta
Donor increased95599wt: 0.45 / mu: 0.58wt: GCAGATGAGCAGCAT
mu: GCAGATGAGCAGCAC		 AGAT|gagc
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 0.66 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