Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999512 (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) chr3:195501149C>TN/A show variant in all transcripts   IGV
HGNC symbol MUC4
Ensembl transcript ID ENST00000346145
Genbank transcript ID NM_004532
UniProt peptide Q99102
alteration type single base exchange
alteration region CDS
DNA changes c.263G>A
cDNA.303G>A
g.38000G>A
AA changes G88D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 88
frameshift no
known variant Reference ID: rs2259292
databasehomozygous (T/T)heterozygousallele carriers
1000G89811402038
ExAC19889-701112878
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1620
-0.4710
(flanking)-0.2520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37990wt: 0.9900 / mu: 0.9901 (marginal change - not scored)wt: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGAC
mu: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGAC		 ccct|ATGG
Acc marginally increased37994wt: 0.9960 / mu: 0.9960 (marginal change - not scored)wt: AGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGG
mu: AGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGG		 atgg|GGCA
Acc marginally increased37991wt: 0.7095 / mu: 0.7214 (marginal change - not scored)wt: AGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACC
mu: AGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACC		 ccta|TGGG
Donor increased38001wt: 0.40 / mu: 0.56wt: GCAGGCGCCGGGGAC
mu: GCAGACGCCGGGGAC		 AGGC|gccg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      88ERGVSLFPYGAGAGDLEFVRRTVD
mutated  not conserved    88ERGVSLFPYGADAGDLEFVRRTV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000079620  2385EVGDQNLFARTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051004  n/a
Celegans  no alignment  K03H1.5  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
161161CARBOHYDO-linked (GalNAc...) (Potential).might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
260260CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
7931013COMPBIASSer-rich.might get lost (downstream of altered splice site)
10021038REGIONRepeat.might get lost (downstream of altered splice site)
11541309DOMAINNIDO.might get lost (downstream of altered splice site)
11941194CONFLICTM -> I (in Ref. 1; CAB85602/CAB85603/ CAB85604/CAB85605/CAB85606, 2; CAB81773/ CAC14141/CAC14142/CAC14143, 3; AAM66747, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
12591259CONFLICTN -> K (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
12711271CONFLICTY -> F (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13051305CONFLICTR -> G (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13101425DOMAINAMOP.might get lost (downstream of altered splice site)
14381673DOMAINVWFD.might get lost (downstream of altered splice site)
14441445SITECleavage.might get lost (downstream of altered splice site)
14721472CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251525CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15441544CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15531553CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15571557CONFLICTV -> A (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
15881588CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16321632CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16591659CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16851685CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17031703CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17391739CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17541754CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18021802CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18091809CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
18571857CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18751914DOMAINEGF-like 1.might get lost (downstream of altered splice site)
18761876CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18791879DISULFIDBy similarity.might get lost (downstream of altered splice site)
18841884DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
19021902DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19131913DISULFIDBy similarity.might get lost (downstream of altered splice site)
19201921CONFLICTMissing (in Ref. 2; CAC14143).might get lost (downstream of altered splice site)
19421942CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19491949CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20392039CONFLICTG -> E (in Ref. 1; CAB85604/CAB85605/ CAB85606, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
20492049CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20782117DOMAINEGF-like 2.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20862086DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21012101DISULFIDBy similarity.might get lost (downstream of altered splice site)
21032103DISULFIDBy similarity.might get lost (downstream of altered splice site)
21162116DISULFIDBy similarity.might get lost (downstream of altered splice site)
21262146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3531 / 3531
position (AA) of stopcodon in wt / mu AA sequence 1177 / 1177
position of stopcodon in wt / mu cDNA 3571 / 3571
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 41 / 41
chromosome 3
strand -1
last intron/exon boundary 3367
theoretical NMD boundary in CDS 3276
length of CDS 3531
coding sequence (CDS) position 263
cDNA position
(for ins/del: last normal base / first normal base)		 303
gDNA position
(for ins/del: last normal base / first normal base)		 38000
chromosomal position
(for ins/del: last normal base / first normal base)		 195501149
original gDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered gDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
original cDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered cDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
wildtype AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGMT TPSLKTDGGR RTATSPPPTT SQTIISTIPS
TAMHTRSTAA PIPILPERGV SLFPYGAGAG DLEFVRRTVD FTSPLFKPAT GFPLGSSLRD
SLYFTDNGQI IFPESDYQIF SYPNPLPTGF TGRDPVALVA PFWDDADFST GRGTTFYQEY
ETFYGEHSLL VQQAESWIRK MTNNGGYKAR WALKVTWVNA HAYPAQWTLG SNTYQAILST
DGSRSYALFL YQSGGMQWDV AQRSGNPVLM GFSSGDGYFE NSPLMSQPVW ERYRPDRFLN
SNSGLQGLQF YRLHREERPN YRLECLQWLK SQPRWPSWGW NQVSCPCSWQ QGRRDLRFQP
VSIGRWGLGS RQLCSFTSWR GGVCCSYGPW GEFREGWHVQ RPWQLAQELE PQSWCCRWND
KPYLCALYQQ RRPHVGCATY RPPQPAWMFG DPHITTLDGV SYTFNGLGDF LLVGAQDGNS
SFLLQGRTAQ TGSAQATNFI AFAAQYRSSS LGPVTVQWLL EPHDAIRVLL DNQTVTFQPD
HEDGGGQETF NATGVLLSRN GSEVSASFDG WATVSVIALS NILHASASLP PEYQNRTEGL
LGVWNNNPED DFRMPNGSTI PPGSPEEMLF HFGMTWQING TGLLGKRNDQ LPSNFTPVFY
SQLQKNSSWA EHLISNCDGD SSCIYDTLAL RNASIGLHTR EVSKNYEQAN ATLNQYPPSI
NGGRVIEAYK GQTTLIQYTS NAEDANFTLR DSCTDLELFE NGTLLWTPKS LEPFTLEILA
RSAKIGLASA LQPRTVVCHC NAESQCLYNQ TSRVGNSSLE VAGCKCDGGT FGRYCEGSED
ACEEPCFPSV HCVPGKGCEA CPPNLTGDGR HCAALGSSFL CQNQSCPVNY CYNQGHCYIS
QTLGCQPMCT CPPAFTDSRC FLAGNNFSPT VNLELPLRVI QLLLSEEENA SMAEVNASVA
YRLGTLDMRA FLRNSQVERI DSAAPASGSP IQHWMVISEF QYRPRGPVID FLNNQLLAAV
VEAFLYHVPR RSEEPRNDVV FQPISGEDVR DVTALNVSTL KAYFRCDGYK GYDLVYSPQS
GFTCVSPCSR GYCDHGGQCQ HLPSGPRCSC VSFSIYTAWG EHCEHLSMKL DAFFGIFFGA
LGGLLLLGVG TFVVLRFWGC SGARFSYFLN SAEALP*
mutated AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGMT TPSLKTDGGR RTATSPPPTT SQTIISTIPS
TAMHTRSTAA PIPILPERGV SLFPYGADAG DLEFVRRTVD FTSPLFKPAT GFPLGSSLRD
SLYFTDNGQI IFPESDYQIF SYPNPLPTGF TGRDPVALVA PFWDDADFST GRGTTFYQEY
ETFYGEHSLL VQQAESWIRK MTNNGGYKAR WALKVTWVNA HAYPAQWTLG SNTYQAILST
DGSRSYALFL YQSGGMQWDV AQRSGNPVLM GFSSGDGYFE NSPLMSQPVW ERYRPDRFLN
SNSGLQGLQF YRLHREERPN YRLECLQWLK SQPRWPSWGW NQVSCPCSWQ QGRRDLRFQP
VSIGRWGLGS RQLCSFTSWR GGVCCSYGPW GEFREGWHVQ RPWQLAQELE PQSWCCRWND
KPYLCALYQQ RRPHVGCATY RPPQPAWMFG DPHITTLDGV SYTFNGLGDF LLVGAQDGNS
SFLLQGRTAQ TGSAQATNFI AFAAQYRSSS LGPVTVQWLL EPHDAIRVLL DNQTVTFQPD
HEDGGGQETF NATGVLLSRN GSEVSASFDG WATVSVIALS NILHASASLP PEYQNRTEGL
LGVWNNNPED DFRMPNGSTI PPGSPEEMLF HFGMTWQING TGLLGKRNDQ LPSNFTPVFY
SQLQKNSSWA EHLISNCDGD SSCIYDTLAL RNASIGLHTR EVSKNYEQAN ATLNQYPPSI
NGGRVIEAYK GQTTLIQYTS NAEDANFTLR DSCTDLELFE NGTLLWTPKS LEPFTLEILA
RSAKIGLASA LQPRTVVCHC NAESQCLYNQ TSRVGNSSLE VAGCKCDGGT FGRYCEGSED
ACEEPCFPSV HCVPGKGCEA CPPNLTGDGR HCAALGSSFL CQNQSCPVNY CYNQGHCYIS
QTLGCQPMCT CPPAFTDSRC FLAGNNFSPT VNLELPLRVI QLLLSEEENA SMAEVNASVA
YRLGTLDMRA FLRNSQVERI DSAAPASGSP IQHWMVISEF QYRPRGPVID FLNNQLLAAV
VEAFLYHVPR RSEEPRNDVV FQPISGEDVR DVTALNVSTL KAYFRCDGYK GYDLVYSPQS
GFTCVSPCSR GYCDHGGQCQ HLPSGPRCSC VSFSIYTAWG EHCEHLSMKL DAFFGIFFGA
LGGLLLLGVG TFVVLRFWGC SGARFSYFLN SAEALP*
speed 0.92 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