Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.97003833829116 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:6596360G>AN/A show variant in all transcripts   IGV
HGNC symbol MAN2B2
Ensembl transcript ID ENST00000285599
Genbank transcript ID NM_015274
UniProt peptide Q9Y2E5
alteration type single base exchange
alteration region CDS
DNA changes c.958G>A
cDNA.994G>A
g.19459G>A
AA changes V320M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 320
frameshift no
known variant Reference ID: rs2301795
databasehomozygous (A/A)heterozygousallele carriers
1000G52112391760
ExAC14930290717837
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.4960.063
1.9450.533
(flanking)1.4380.549
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      320INSHAAELGVSVQYATLGDYFRAL
mutated  all conserved    320INSHAAELGVSMQYATLGDYFRA
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000005298  320LPAQPASLGDPGRGCLCSPSFSA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029119  320INQRTAQFGISVQYATLNDYFQA
Ggallus  all identical  ENSGALG00000015537  319INKHSDEFGVTVQYATVGDYFQA
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000079463  316INTHSDQYGVTVQYATLKDYFQT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011609  318INKH-TEFGVTVHYSTLGDYFKN
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3030 / 3030
position (AA) of stopcodon in wt / mu AA sequence 1010 / 1010
position of stopcodon in wt / mu cDNA 3066 / 3066
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 37 / 37
chromosome 4
strand 1
last intron/exon boundary 2969
theoretical NMD boundary in CDS 2882
length of CDS 3030
coding sequence (CDS) position 958
cDNA position
(for ins/del: last normal base / first normal base)		 994
gDNA position
(for ins/del: last normal base / first normal base)		 19459
chromosomal position
(for ins/del: last normal base / first normal base)		 6596360
original gDNA sequence snippet CTGCCGAGCTCGGTGTCTCGGTGCAGTATGCCACGCTGGGC
altered gDNA sequence snippet CTGCCGAGCTCGGTGTCTCGATGCAGTATGCCACGCTGGGC
original cDNA sequence snippet CTGCCGAGCTCGGTGTCTCGGTGCAGTATGCCACGCTGGGC
altered cDNA sequence snippet CTGCCGAGCTCGGTGTCTCGATGCAGTATGCCACGCTGGGC
wildtype AA sequence MGQLCWLPLL APLLLLRPPG VQSAGPIRAF VVPHSHMDVG WVYTVQESMR AYAANVYTSV
VEELARGQQR RFIAVEQEFF RLWWDGVASD QQKYQVRQLL EEGRLEFVIG GQVMHDEAVT
HLDDQILQLT EGHGFLYETF GIRPQFSWHV DPFGASATTP TLFALAGFNA HLGSRIDYDL
KAAMQEARGL QFVWRGSPSL SERQEIFTHI MDQYSYCTPS HIPFSNRSGF YWNGVAVFPK
PPQDGVYPNM SEPVTPANIN LYAEALVANV KQRAAWFRTP HVLWPWGCDK QFFNASVQFA
NMDPLLDHIN SHAAELGVSV QYATLGDYFR ALHALNVTWR VRDHHDFLPY STEPFQAWTG
FYTSRSSLKG LARRASALLY AGESMFTRYL WPAPRGHLDP TWALQQLQQL RWAVSEVQHH
DAITGTESPK VRDMYATHLA SGMLGMRKLM ASIVLDELQP QAPMAASSDA GPAGHFASVY
NPLAWTVTTI VTLTVGFPGV RVTDEAGHPV PSQIQNSTET PSAYDLLILT TIPGLSYRHY
NIRPTAGAQE GTQEPAATVA STLQFGRRLR RRTSHAGRYL VPVANDCYIV LLDQDTNLMH
SIWERQSNRT VRVTQEFLEY HVNGDVKQGP ISDNYLFTPG KAAVPAWEAV EMEIVAGQLV
TEIRQYFYRN MTAQNYTYAI RSRLTHVPQG HDGELLCHRI EQEYQAGPLE LNREAVLRTS
TNLNSQQVIY SDNNGYQMQR RPYVSYVNNS IARNYYPMVQ SAFMEDGKSR LVLLSERAHG
ISSQGNGQVE VMLHRRLWNN FDWDLGYNLT LNDTSVVHPV LWLLLGSWSL TTALRQRSAL
ALQHRPVVLF GDLAGTAPKL PGPQQQEAVT LPPNLHLQIL SIPGWRYSSN HTEHSQNLRK
GHRGEAQADL RRVLLRLYHL YEVGEDPVLS QPVTVNLEAV LQALGSVVAV EERSLTGTWD
LSMLHRWSWR TGPGRHRGDT TSPSRPPGGP IITVHPKEIR TFFIHFQQQ*
mutated AA sequence MGQLCWLPLL APLLLLRPPG VQSAGPIRAF VVPHSHMDVG WVYTVQESMR AYAANVYTSV
VEELARGQQR RFIAVEQEFF RLWWDGVASD QQKYQVRQLL EEGRLEFVIG GQVMHDEAVT
HLDDQILQLT EGHGFLYETF GIRPQFSWHV DPFGASATTP TLFALAGFNA HLGSRIDYDL
KAAMQEARGL QFVWRGSPSL SERQEIFTHI MDQYSYCTPS HIPFSNRSGF YWNGVAVFPK
PPQDGVYPNM SEPVTPANIN LYAEALVANV KQRAAWFRTP HVLWPWGCDK QFFNASVQFA
NMDPLLDHIN SHAAELGVSM QYATLGDYFR ALHALNVTWR VRDHHDFLPY STEPFQAWTG
FYTSRSSLKG LARRASALLY AGESMFTRYL WPAPRGHLDP TWALQQLQQL RWAVSEVQHH
DAITGTESPK VRDMYATHLA SGMLGMRKLM ASIVLDELQP QAPMAASSDA GPAGHFASVY
NPLAWTVTTI VTLTVGFPGV RVTDEAGHPV PSQIQNSTET PSAYDLLILT TIPGLSYRHY
NIRPTAGAQE GTQEPAATVA STLQFGRRLR RRTSHAGRYL VPVANDCYIV LLDQDTNLMH
SIWERQSNRT VRVTQEFLEY HVNGDVKQGP ISDNYLFTPG KAAVPAWEAV EMEIVAGQLV
TEIRQYFYRN MTAQNYTYAI RSRLTHVPQG HDGELLCHRI EQEYQAGPLE LNREAVLRTS
TNLNSQQVIY SDNNGYQMQR RPYVSYVNNS IARNYYPMVQ SAFMEDGKSR LVLLSERAHG
ISSQGNGQVE VMLHRRLWNN FDWDLGYNLT LNDTSVVHPV LWLLLGSWSL TTALRQRSAL
ALQHRPVVLF GDLAGTAPKL PGPQQQEAVT LPPNLHLQIL SIPGWRYSSN HTEHSQNLRK
GHRGEAQADL RRVLLRLYHL YEVGEDPVLS QPVTVNLEAV LQALGSVVAV EERSLTGTWD
LSMLHRWSWR TGPGRHRGDT TSPSRPPGGP IITVHPKEIR TFFIHFQQQ*
speed 1.08 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