Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999852 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr8:10383138G>AN/A
show variant in all transcripts IGV
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HGNC symbol | PRSS55 |
Ensembl transcript ID | ENST00000522210 |
Genbank transcript ID | NM_001197020 |
UniProt peptide | Q6UWB4 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.43G>A cDNA.83G>A g.83G>A |
AA changes | G15R Score: 125 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 15 |
frameshift | no |
known variant | Reference ID: rs35102108
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | 107 | 714 | 821 |
ExAC | 2803 | 19196 | 21999 |
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -0.178 | 0 | | -0.212 | 0 | (flanking) | -0.872 | 0 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Acc marginally increased | 73 | wt: 0.5919 / mu: 0.6452 (marginal change - not scored) | wt: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCT mu: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCT | gtcc|CTGG | Acc marginally increased | 80 | wt: 0.2625 / mu: 0.2768 (marginal change - not scored) | wt: TGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCA mu: TGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCA | gtca|CGGG | Acc marginally increased | 83 | wt: 0.8782 / mu: 0.9035 (marginal change - not scored) | wt: TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG mu: TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG | acgg|GAAC | Acc marginally increased | 74 | wt: 0.5513 / mu: 0.6069 (marginal change - not scored) | wt: CAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTC mu: CAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTC | tccc|TGGT | Donor marginally increased | 81 | wt: 0.9855 / mu: 0.9871 (marginal change - not scored) | wt: GGTCACGGGAACTCA mu: GGTCACGAGAACTCA | TCAC|ggga | Donor marginally increased | 76 | wt: 0.9721 / mu: 0.9769 (marginal change - not scored) | wt: TCCCTGGTCACGGGA mu: TCCCTGGTCACGAGA | CCTG|gtca | Donor gained | 78 | 0.43 | mu: CCTGGTCACGAGAAC | TGGT|cacg |
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distance from splice site | 83 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 15 | F | S | V | L | L | L | L | S | L | V | T | G | T | Q | L | G | P | R | T | P | L | P | E | A |
mutated | not conserved | | 15 | F | S | V | L | L | L | L | S | L | V | T | R | T | Q | L | G | P | R | T | P | L | P | E |
Ptroglodytes | all identical | ENSPTRG00000019975 | 15 | F | S | V | L | L | L | L | S | L | V | T | G | T | Q | L | G | P | R | T | P | L | P | E |
Mmulatta | not conserved | ENSMMUG00000012043 | 15 | F | S | V | L | L | L | L | S | L | V | T | E | A | Q | L | S | P | R | T | P | L | P | E |
Fcatus | no homologue | | | |
Mmusculus | no alignment | ENSMUSG00000034623 | n/a | |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no alignment | FBgn0052808 | n/a | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 1 | 18 | SIGNAL | Potential. | lost | 19 | 326 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 68 | 300 | DOMAIN | Peptidase S1. | might get lost (downstream of altered splice site) | 93 | 93 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 108 | 108 | ACT_SITE | Charge relay system (By similarity). | might get lost (downstream of altered splice site) | 109 | 109 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 156 | 156 | ACT_SITE | Charge relay system (By similarity). | might get lost (downstream of altered splice site) | 189 | 189 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 222 | 222 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 235 | 235 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 240 | 240 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 246 | 246 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 250 | 250 | ACT_SITE | Charge relay system (By similarity). | might get lost (downstream of altered splice site) | 256 | 256 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 276 | 276 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 327 | 347 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 348 | 352 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 831 / 831 |
position (AA) of stopcodon in wt / mu AA sequence | 277 / 277 |
position of stopcodon in wt / mu cDNA | 871 / 871 |
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 | 8 |
strand | 1 |
last intron/exon boundary | 782 |
theoretical NMD boundary in CDS | 691 |
length of CDS | 831 |
coding sequence (CDS) position | 43 |
cDNA position (for ins/del: last normal base / first normal base) | 83 |
gDNA position (for ins/del: last normal base / first normal base) | 83 |
chromosomal position (for ins/del: last normal base / first normal base) | 10383138 |
original gDNA sequence snippet | TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG |
altered gDNA sequence snippet | TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG |
original cDNA sequence snippet | TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG |
altered cDNA sequence snippet | TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG |
wildtype AA sequence | MLLFSVLLLL SLVTGTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN ESYDACKQSY FPTLQRMNTG SSQTKPPGSH TFHLQN* |
mutated AA sequence | MLLFSVLLLL SLVTRTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN ESYDACKQSY FPTLQRMNTG SSQTKPPGSH TFHLQN* |
speed | 1.17 s |
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