| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 14|86 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 48|52 | simple_ | No | Single base exchange | Normal |
| ||||||
| FCGR3A | Benign | 48|52 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000443193(MANE Select) | FCGR3A | Benign | 48|52 | simple_ | No | Single base exchange | Normal |
| |||||
| FCGR3A | Benign | 49|51 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | |||||||||||||
| Gene symbol | FCGR3A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699401.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.526T>G g.6217T>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGETCATLE CPGTPVCGTC NHTGKLSWEE IPDSYTHFFI CGSLLVITRR SPKVPDCRVW QCQPSHHSFH LGTKSLSAW* | |||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGETCATLE CPGTPVCGTC NHTGKLSWEE IPDSYTHFFI CGSLLVITRR SPKVPDCRVW QCQPSHHSFH LGTKSLSAW* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 810 / 810 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 270 / 270 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 924 / 924 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 115 / 115 | |||||||||||||
| Last intron/exon boundary | 858 | |||||||||||||
| Theoretical NMD boundary in CDS | 693 | |||||||||||||
| Length of CDS | 810 | |||||||||||||
| Coding sequence (CDS) position | 526 | |||||||||||||
| cDNA position | 640 | |||||||||||||
| gDNA position | 6217 | |||||||||||||
| Chromosomal position | 161544752 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | |||||||||||||
| Gene symbol | FCGR3A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699400.1 | |||||||||||||
| Genbank transcript ID | NM_001386450 (by similarity), NM_001127596 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.523T>G g.6217T>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT DLPKAVVFLE PQWYRVLEKD SVTLKCQGAY SPEDNSTQWF HNESLISSQA SSYFIDAATV DDSGEYRCQT NLSTLSDPVQ LEVHIGWLLL QAPRWVFKEE DPIHLRCHSW KNTALHKVTY LQNGKGRKYF HHNSDFYIPK ATLKDSGSYF CRGLFGSKNV SSETVNITIT QGLAVSTISS FFPPGYQVSF CLVMVLLFAV DTGLYFSVKT NIRSSTRDWK DHKFKWRKDP QDK* | |||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT DLPKAVVFLE PQWYRVLEKD SVTLKCQGAY SPEDNSTQWF HNESLISSQA SSYFIDAATV DDSGEYRCQT NLSTLSDPVQ LEVHIGWLLL QAPRWVFKEE DPIHLRCHSW KNTALHKVTY LQNGKGRKYF HHNSDFYIPK ATLKDSGSYF CRGLVGSKNV SSETVNITIT QGLAVSTISS FFPPGYQVSF CLVMVLLFAV DTGLYFSVKT NIRSSTRDWK DHKFKWRKDP QDK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 762 / 762 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 254 / 254 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 876 / 876 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 115 / 115 | |||||||||||||
| Last intron/exon boundary | 688 | |||||||||||||
| Theoretical NMD boundary in CDS | 523 | |||||||||||||
| Length of CDS | 762 | |||||||||||||
| Coding sequence (CDS) position | 523 | |||||||||||||
| cDNA position | 637 | |||||||||||||
| gDNA position | 6217 | |||||||||||||
| Chromosomal position | 161544752 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | |||||||||||||
| Gene symbol | FCGR3A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699399.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.475T>G g.6217T>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Wildtype AA sequence | MRTEDLPKAV VFLEPQWYRV LEKDSVTLKC QGAYSPEDNS TQWFHNESLI SSQASSYFID AATVDDSGEY RCQTNLSTLS DPVQLEVHIG WLLLQAPRWV FKEEDPIHLR CHSWKNTALH KVTYLQNGKG RKYFHHNSDF YIPKATLKDS GSYFCRGLFG SKNVSSETVN ITITQGLAVS TISSFFPPGY QVSFCLVMVL LFAVDTGLYF SVKTNIRSST RDWKDHKFKW RKDPQDK* | |||||||||||||
| Mutated AA sequence | MRTEDLPKAV VFLEPQWYRV LEKDSVTLKC QGAYSPEDNS TQWFHNESLI SSQASSYFID AATVDDSGEY RCQTNLSTLS DPVQLEVHIG WLLLQAPRWV FKEEDPIHLR CHSWKNTALH KVTYLQNGKG RKYFHHNSDF YIPKATLKDS GSYFCRGLVG SKNVSSETVN ITITQGLAVS TISSFFPPGY QVSFCLVMVL LFAVDTGLYF SVKTNIRSST RDWKDHKFKW RKDPQDK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 714 / 714 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 238 / 238 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 984 / 984 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 271 / 271 | |||||||||||||
| Last intron/exon boundary | 796 | |||||||||||||
| Theoretical NMD boundary in CDS | 475 | |||||||||||||
| Length of CDS | 714 | |||||||||||||
| Coding sequence (CDS) position | 475 | |||||||||||||
| cDNA position | 745 | |||||||||||||
| gDNA position | 6217 | |||||||||||||
| Chromosomal position | 161544752 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | |||||||||||||
| Gene symbol | FCGR3A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699398.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.526T>G g.6217T>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGETCATLE CPGTPVCGTC NHTGKLSWEE IPDSYTHFFI CGSLLVITRR SPKVPDCRVG LQLCFSPFFW GS* | |||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGETCATLE CPGTPVCGTC NHTGKLSWEE IPDSYTHFFI CGSLLVITRR SPKVPDCRVG LQLCFSPFFW GS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 789 / 789 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 263 / 263 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 903 / 903 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 115 / 115 | |||||||||||||
| Last intron/exon boundary | 433 | |||||||||||||
| Theoretical NMD boundary in CDS | 268 | |||||||||||||
| Length of CDS | 789 | |||||||||||||
| Coding sequence (CDS) position | 526 | |||||||||||||
| cDNA position | 640 | |||||||||||||
| gDNA position | 6217 | |||||||||||||
| Chromosomal position | 161544752 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FCGR3A | ||||||||||||||||||||||||||
| Gene constraints | no data | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000699397.1 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001329120 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FCG3A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.526T>G g.6217T>G | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 1 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 765 / 765 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 255 / 255 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1142 / 1142 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 378 / 378 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 954 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 526 | ||||||||||||||||||||||||||
| Length of CDS | 765 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 526 | ||||||||||||||||||||||||||
| cDNA position | 903 | ||||||||||||||||||||||||||
| gDNA position | 6217 | ||||||||||||||||||||||||||
| Chromosomal position | 161544752 | ||||||||||||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FCGR3A | ||||||||||||||||||||||||||
| Gene constraints | no data | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000699396.1 | ||||||||||||||||||||||||||
| Genbank transcript ID | |||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FCG3A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.526T>G g.6217T>G | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 1 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 765 / 765 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 255 / 255 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 871 / 871 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 107 / 107 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 683 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 526 | ||||||||||||||||||||||||||
| Length of CDS | 765 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 526 | ||||||||||||||||||||||||||
| cDNA position | 632 | ||||||||||||||||||||||||||
| gDNA position | 6217 | ||||||||||||||||||||||||||
| Chromosomal position | 161544752 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FCGR3A | ||||||||||||||||||||||||||
| Gene constraints | no data | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000699395.1 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001329122 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FCG3A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.526T>G g.6217T>G | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 1 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 765 / 765 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 255 / 255 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 997 / 997 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 233 / 233 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 809 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 526 | ||||||||||||||||||||||||||
| Length of CDS | 765 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 526 | ||||||||||||||||||||||||||
| cDNA position | 758 | ||||||||||||||||||||||||||
| gDNA position | 6217 | ||||||||||||||||||||||||||
| Chromosomal position | 161544752 | ||||||||||||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FCGR3A | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 1.01, LOF (oe): 0.66, misssense (oe): 0.86, synonymous (oe): 0.90 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000436743.7 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001127593 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FCG3A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.526T>G g.6217T>G | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 1 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 765 / 765 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 255 / 255 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 918 / 918 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 154 / 154 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 730 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 526 | ||||||||||||||||||||||||||
| Length of CDS | 765 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 526 | ||||||||||||||||||||||||||
| cDNA position | 679 | ||||||||||||||||||||||||||
| gDNA position | 6217 | ||||||||||||||||||||||||||
| Chromosomal position | 161544752 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FCGR3A | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 1.01, LOF (oe): 0.66, misssense (oe): 0.86, synonymous (oe): 0.90 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000367967.8 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001127595 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FCG3A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.526T>G g.6217T>G | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 1 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 765 / 765 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 255 / 255 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 897 / 897 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 133 / 133 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 709 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 526 | ||||||||||||||||||||||||||
| Length of CDS | 765 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 526 | ||||||||||||||||||||||||||
| cDNA position | 658 | ||||||||||||||||||||||||||
| gDNA position | 6217 | ||||||||||||||||||||||||||
| Chromosomal position | 161544752 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FCGR3A | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 1.01, LOF (oe): 0.66, misssense (oe): 0.86, synonymous (oe): 0.90 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000443193.6 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_000569 (exact from MANE) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FCG3A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.526T>G g.6217T>G | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 1 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLFGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT EDLPKAVVFL EPQWYRVLEK DSVTLKCQGA YSPEDNSTQW FHNESLISSQ ASSYFIDAAT VDDSGEYRCQ TNLSTLSDPV QLEVHIGWLL LQAPRWVFKE EDPIHLRCHS WKNTALHKVT YLQNGKGRKY FHHNSDFYIP KATLKDSGSY FCRGLVGSKN VSSETVNITI TQGLAVSTIS SFFPPGYQVS FCLVMVLLFA VDTGLYFSVK TNIRSSTRDW KDHKFKWRKD PQDK* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 765 / 765 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 255 / 255 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 847 / 847 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 83 / 83 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 659 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 526 | ||||||||||||||||||||||||||
| Length of CDS | 765 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 526 | ||||||||||||||||||||||||||
| cDNA position | 608 | ||||||||||||||||||||||||||
| gDNA position | 6217 | ||||||||||||||||||||||||||
| Chromosomal position | 161544752 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:161544752A>C (GRCh38) | |||||||||||||
| Gene symbol | FCGR3A | |||||||||||||
| Gene constraints | LOEUF: 1.02, LOF (oe): 0.66, misssense (oe): 0.86, synonymous (oe): 0.89 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000426740.8 | |||||||||||||
| Genbank transcript ID | NM_001127592 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.523T>G g.6217T>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered gDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Original cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTTTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Altered cDNA sequence snippet | CCTACTTCTGCAGGGGGCTTGTTGGGAGTAAAAATGTGTCT | |||||||||||||
| Wildtype AA sequence | MWQLLLPTAL LLLVSAGMRT DLPKAVVFLE PQWYRVLEKD SVTLKCQGAY SPEDNSTQWF HNESLISSQA SSYFIDAATV DDSGEYRCQT NLSTLSDPVQ LEVHIGWLLL QAPRWVFKEE DPIHLRCHSW KNTALHKVTY LQNGKGRKYF HHNSDFYIPK ATLKDSGSYF CRGLFGSKNV SSETVNITIT QGLAVSTISS FFPPGYQVSF CLVMVLLFAV DTGLYFSVKT NIRSSTRDWK DHKFKWRKDP QDK* | |||||||||||||
| Mutated AA sequence | MWQLLLPTAL LLLVSAGMRT DLPKAVVFLE PQWYRVLEKD SVTLKCQGAY SPEDNSTQWF HNESLISSQA SSYFIDAATV DDSGEYRCQT NLSTLSDPVQ LEVHIGWLLL QAPRWVFKEE DPIHLRCHSW KNTALHKVTY LQNGKGRKYF HHNSDFYIPK ATLKDSGSYF CRGLVGSKNV SSETVNITIT QGLAVSTISS FFPPGYQVSF CLVMVLLFAV DTGLYFSVKT NIRSSTRDWK DHKFKWRKDP QDK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 762 / 762 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 254 / 254 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 879 / 879 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 118 / 118 | |||||||||||||
| Last intron/exon boundary | 691 | |||||||||||||
| Theoretical NMD boundary in CDS | 523 | |||||||||||||
| Length of CDS | 762 | |||||||||||||
| Coding sequence (CDS) position | 523 | |||||||||||||
| cDNA position | 640 | |||||||||||||
| gDNA position | 6217 | |||||||||||||
| Chromosomal position | 161544752 | |||||||||||||
| Speed | 0.07 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project