Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999995985      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:49388901C>TN/A show variant in all transcripts   IGV
HGNC symbol FRMPD2
Ensembl transcript ID ENST00000305531
Genbank transcript ID N/A
UniProt peptide Q68DX3
alteration type single base exchange
alteration region CDS
DNA changes c.2660G>A
cDNA.2707G>A
g.94041G>A
AA changes G887E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 887
frameshift no
known variant Reference ID: rs61840030
Allele 'T' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280
-3.0840
(flanking)0.6140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased94044wt: 0.61 / mu: 0.83wt: TGGGGTGCAGAGCTT
mu: TGAGGTGCAGAGCTT		 GGGT|gcag
Donor gained940360.86mu: GACATGGCTGAGGTG CATG|gctg
Donor gained940370.55mu: ACATGGCTGAGGTGC ATGG|ctga
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      887QDRNTEELDMAGVQSLVPRLRHQL
mutated  not conserved    887QDRNTEELDMAEVQSLVPRLRHQ
Ptroglodytes  all identical  ENSPTRG00000002477  912DMAGVQSLVPRLRHQ
Mmulatta  all identical  ENSMMUG00000004056  900DMAGVKSLVPRLRHQ
Fcatus  not conserved  ENSFCAG00000006974  912TEELEMAQTQSLLSRVR-P
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074119  830---MMTPKASNR
Dmelanogaster  no homologue    
Celegans  no alignment  Y38C1AB.8  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
895895CONFLICTL -> S (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
9501035DOMAINPDZ 2.might get lost (downstream of altered splice site)
955955MUTAGENK->E: Abolishes the basolateral membrane localization.might get lost (downstream of altered splice site)
969969CONFLICTN -> M (in Ref. 5; AAH73954/AAI44636/ AAI44640).might get lost (downstream of altered splice site)
10771077CONFLICTK -> N (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
10791167DOMAINPDZ 3.might get lost (downstream of altered splice site)
11741174CONFLICTL -> M (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
12141214CONFLICTS -> F (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3855 / 3855
position (AA) of stopcodon in wt / mu AA sequence 1285 / 1285
position of stopcodon in wt / mu cDNA 3902 / 3902
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 48 / 48
chromosome 10
strand -1
last intron/exon boundary 3854
theoretical NMD boundary in CDS 3756
length of CDS 3855
coding sequence (CDS) position 2660
cDNA position
(for ins/del: last normal base / first normal base)		 2707
gDNA position
(for ins/del: last normal base / first normal base)		 94041
chromosomal position
(for ins/del: last normal base / first normal base)		 49388901
original gDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered gDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
original cDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered cDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
wildtype AA sequence MHVFIVGMSL SSVTLASALQ VRGEALSEEE IWSLLFLAAE QLLEDLRNDS SDYVVCPWSA
LLSAAGSLSF QGRVSHIEAA PFKAPELLQG QSEDEQPDAS QPLQLCEPLH SILLTMCEDQ
PHRRCTLQSV LEACRVHEKE VSVYPAPAGL HIRRLVGLVL GTISEVEKRV VEESSSVQQN
RSYLLRKRLR GTSSESPAAQ APECLHPCRV SERSTETQSS PEPHWSTLTH SHCSLLVNRA
LPGADPQDQQ AGRRLSSGSV HSAADSSWPT TPSQRGFLQR RSKFSRPEFI LLAGEAPMTL
HLPGSVVTKK GKSYLALRDL CVVLLNGQHL EVKCDVESTV GAVFNAVTSF ANLEELTYFG
LAYMKSKEFF FLDSETRLCK IAPEGWREQP QKTSMNTFTL FLRIKFFVSH YGLLQHSLTR
HQFYLQLRKD ILEERLYCNE EILLQLGVLA LQAEFGNYPK EVESKPYFHV EDYIPASLIE
RMTALRVQVE VSEMHRLSSA LWGEDAELKF LRVTQQLPEY GVLVHQVFSE KRRPEEEMAL
GICAKGVIVY EVKNNSRIAM LRFQWRETGK ISTYQKKFTI TSSVTGKKHT FVTDSAKTSK
YLLDLCSAQH GFNAQMGSGQ PSHVLFDHDK FVQMANLSPA HQARSKPLIW IQRLSCSENE
LFVSRLQGAA GGLLSTSMDN FNVDGSKEAG AEGIGRSPCT GREQLKSACV IQKPMTWDSL
SGPPVQSMHA GSKNNRRKSF IAEPGREIVR VTLKRDPHRG FGFVINEGEY SGQADPGIFI
SSIIPGGPAE KAKTIKPGGQ ILALNHISLE GFTFNMAVRM IQNSPDNIEL IISQSKGVGG
NNPDEEKNST ANSGVSSTDI LSFGYQGSLL SHTQDQDRNT EELDMAGVQS LVPRLRHQLS
FLPLKGAGSS CPPSPPEISA GEIYFVELVK EDGTLGFSVT GGINTSVPYG GIYVKSIVPG
GPAAKEGQIL QGDRLLQVDG VILCGLTHKQ AVQCLTGPGQ VARLVLERRV PRSTQQCPSA
NDSMGDERTA VSLVTALPGR PSSCVSVTDG PKFEVKLKKN ANGLGFSFVQ MEKESCSHLK
SDLVRIKRLF PGQPAEENGA IAAGDIILAV NGRSTEGLIF QEVLHLLRGA PQEVTLLLCR
PPPGALPELE QEWQTPELSA DKEFTRATCT DSCTSPILDQ EDSWRDSASP DAGEGLGLRP
ESSQKAIREA QWGQNRERPW ASSLTHSPES HPHLCKLHQE RDESTLATSL EKDVRQNCYS
VCDIMRLGRY SFSSPLTRLS TDIF*
mutated AA sequence MHVFIVGMSL SSVTLASALQ VRGEALSEEE IWSLLFLAAE QLLEDLRNDS SDYVVCPWSA
LLSAAGSLSF QGRVSHIEAA PFKAPELLQG QSEDEQPDAS QPLQLCEPLH SILLTMCEDQ
PHRRCTLQSV LEACRVHEKE VSVYPAPAGL HIRRLVGLVL GTISEVEKRV VEESSSVQQN
RSYLLRKRLR GTSSESPAAQ APECLHPCRV SERSTETQSS PEPHWSTLTH SHCSLLVNRA
LPGADPQDQQ AGRRLSSGSV HSAADSSWPT TPSQRGFLQR RSKFSRPEFI LLAGEAPMTL
HLPGSVVTKK GKSYLALRDL CVVLLNGQHL EVKCDVESTV GAVFNAVTSF ANLEELTYFG
LAYMKSKEFF FLDSETRLCK IAPEGWREQP QKTSMNTFTL FLRIKFFVSH YGLLQHSLTR
HQFYLQLRKD ILEERLYCNE EILLQLGVLA LQAEFGNYPK EVESKPYFHV EDYIPASLIE
RMTALRVQVE VSEMHRLSSA LWGEDAELKF LRVTQQLPEY GVLVHQVFSE KRRPEEEMAL
GICAKGVIVY EVKNNSRIAM LRFQWRETGK ISTYQKKFTI TSSVTGKKHT FVTDSAKTSK
YLLDLCSAQH GFNAQMGSGQ PSHVLFDHDK FVQMANLSPA HQARSKPLIW IQRLSCSENE
LFVSRLQGAA GGLLSTSMDN FNVDGSKEAG AEGIGRSPCT GREQLKSACV IQKPMTWDSL
SGPPVQSMHA GSKNNRRKSF IAEPGREIVR VTLKRDPHRG FGFVINEGEY SGQADPGIFI
SSIIPGGPAE KAKTIKPGGQ ILALNHISLE GFTFNMAVRM IQNSPDNIEL IISQSKGVGG
NNPDEEKNST ANSGVSSTDI LSFGYQGSLL SHTQDQDRNT EELDMAEVQS LVPRLRHQLS
FLPLKGAGSS CPPSPPEISA GEIYFVELVK EDGTLGFSVT GGINTSVPYG GIYVKSIVPG
GPAAKEGQIL QGDRLLQVDG VILCGLTHKQ AVQCLTGPGQ VARLVLERRV PRSTQQCPSA
NDSMGDERTA VSLVTALPGR PSSCVSVTDG PKFEVKLKKN ANGLGFSFVQ MEKESCSHLK
SDLVRIKRLF PGQPAEENGA IAAGDIILAV NGRSTEGLIF QEVLHLLRGA PQEVTLLLCR
PPPGALPELE QEWQTPELSA DKEFTRATCT DSCTSPILDQ EDSWRDSASP DAGEGLGLRP
ESSQKAIREA QWGQNRERPW ASSLTHSPES HPHLCKLHQE RDESTLATSL EKDVRQNCYS
VCDIMRLGRY SFSSPLTRLS TDIF*
speed 0.70 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