| Disease Name: |
AH Amyloidosis |
| ISA Name: |
AH Amyloidosis
|
| Alternative Names: |
- Heavy chain amyloidosis
- Immunoglobulin heavy chain amyloidosis
|
| MeSH Description: |
No information available
|
| Type: |
Amyloidosis
|
| ICD-10 Classification |
Amyloidosis
|
| Tissue: |
Kidney, Lung, Eye (orbit), Heart
|
| Precursor Proteins: |
| Primary Name: |
Immunoglobulin epsilon heavy chain
|
| Gene Name: |
IGE
|
| Alternative Protein Names: |
Immunoglobulin epsilon heavy chain (Immunoglobulin epsilon heavy chain ND)
|
| ISA Nomenclature: |
AH
|
| Protein Length: |
547
|
| Precursor Protein Sequence: |
QVQLVQSGAEVRKPGASVRVSCKASGYTFIDSYVGWIRQAPGHGLEWIHWINPNSGGTNYAPRFQGRVTMTRDASFSTAYMDLRSLRSDDSAVFYCAKSDPFWSDYNFDYSSSEEGTEVTYTVSGAWTLPSVFPLTRCCKNIPSNATSVTLGCLATGYFPEPVMVTWDTGSLNGTTLPATTLTLSGHYATISLLTVSGAWAKQMFTCRVAHTPSSTVDNKTFSVCSRDFTPPTVKILQSSCDGLGHFPPTIQLCLVSGYTPGTINITWLEDGQVMDVDLSTASTESQGELASTESQLTLSQKHWLSDRTYTCQVTYQGHTFQDSTKKCADSNPRGVSAYLSRPSPFDLFIRKSPTITCLVVDLAPSKGTVNLTWSRASGKPVNHSTRKEEKQRNGTLTVTSTLPVGTRDWIEGETYQCRVTHPHLPRALMRSTTKTSGPRAAPEVYAFATPEWPGSRDKRTLACLIQNFMPEDISVQWLHNEVQLPDARHSTTQPRKTKGSGFFVFSRLEVTRAEWQEKDEFICRAVHEAASPSQTVQRAVSVNPGK
|
| UniProt AC: |
P0DOX4
|
| UniProt ID: |
IGE_HUMAN
|
| AmyPro: |
|
| Primary Name: |
Immunoglobulin gamma-1 heavy chain
|
| Gene Name: |
IGG1
|
| Alternative Protein Names: |
Immunoglobulin gamma-1 heavy chain (Immunoglobulin gamma-1 heavy chain NIE)
|
| ISA Nomenclature: |
AH
|
| Protein Length: |
449
|
| Precursor Protein Sequence: |
QVQLVQSGGGVVQPGRSLRLSCAASGFTFSRYTIHWVRQAPGKGLEWVAVMSYBGBBKHYADSVNGRFTISRNDSKNTLYLNMNSLRPEDTAVYYCARIRDTAMFFAHWGQGTLVTVSSASTKGPSVFPLAPSSKSTSGGTAALGCLVKDYFPEPVTVSWNSGALTSGVHTFPAVLQSSGLYSLSSVVTVPSSSLGTQTYICNVNHKPSNTKVDKKVEPKSCDKTHTCPPCPAPELLGGPSVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDPEVKFNWYVDGVEVHNAKTKPREEQYNSTYRVVSVLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAKGQPREPQVYTLPPSRDELTKNQVSLTCLVKGFYPSDIAVEWESNGQPENNYKTTPPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVMHEALHNHYTQKSLSLSPGK
|
| UniProt AC: |
P0DOX5
|
| UniProt ID: |
IGG1_HUMAN
|
| AmyPro: |
|
| Primary Name: |
Immunoglobulin mu heavy chain
|
| Gene Name: |
IGM
|
| Alternative Protein Names: |
Immunoglobulin mu heavy chain (Immunoglobulin mu heavy chain OU)
|
| ISA Nomenclature: |
AH
|
| Protein Length: |
576
|
| Precursor Protein Sequence: |
QVTLTESGPALVKPKQPLTLTCTFSGFSLSTSRMRVSWIRRPPGKALEWLARIDDDDKFYWSTSLRTRLSISKNDSKNQVVLIMINVNPVDTATYYCARVVNSVMAGYYYYYMDVWGKGTTVTVSSGSASAPTLFPLVSCENSBPSSTVAVGCLAQDFLPDSITFSWKYNQSQKISSTRGFPSVLRGGKYAATSQVLLPSKDVMQGTDEHVCKWVQHPNGNKQKNVPLPVIAELPPKVSVFVPPRDGFFGNPRKSKLICQATGFSPRQVWSLREGKQVGSGVTTDQVQAEAKESGPTTYKVTSTLTIKESDWLGESMFTCRVDHRGLTFQQNASSMCVPDQDTAIRVFAIPPSFASIFLTKSTKLTCLVTDLTTYDSVTISWTREENGAVKTHTNISESHPNATFSAVGEASICEDDDWSGERFTCTVTHTDLPSPLKQTISRPKGVALHRPDVYLLPPAREQLNLRESATITCLVTGFSPADVFVQWMQRGEPLSPEKYVTSAPMPEPQAPGRYFAHSILTVSEEEWNTGQTYTCVVAHEALPNRVTERTVDKSTGKPTLYNVSLVMSDTAGTCY
|
| UniProt AC: |
P0DOX6
|
| UniProt ID: |
IGM_HUMAN
|
| AmyPro: |
|
| Primary Name: |
Immunoglobulin alpha-2 heavy chain
|
| Gene Name: |
IGA2
|
| Alternative Protein Names: |
Immunoglobulin alpha-2 heavy chain (Immunoglobulin alpha-2 heavy chain BUT)
|
| ISA Nomenclature: |
AH
|
| Protein Length: |
455
|
| Precursor Protein Sequence: |
EVQLVETGGGLIQPGGSLRLSCAASGFTVSNHSMSWVRQAPGKALEWVSAIYRGGTTYYADSVKGRFTISRDDSRNTVYLQMNSLRAEDTAVYYCARDLAAARLFGKGTTVTVSSASPTSPKVFPLSLDSTPQDGNVVVACLVQGFFPQEPLSVTWSESGQNVTARNFPPSQDASGDLYTTSSQLTLPATQCPDGKSVTCHVKHYTNSSQDVTVPCRVPPPPPCCHPRLSLHRPALEDLLLGSEANLTCTLTGLRDASGATFTWTPSSGKSAVEGPPERDLCGCYSVSSVLPGCAQPWNHGETFTCTAAHPELKTPLTANITKSGNTFRPEVHLLPPPSEELALNELVTLTCLARGFSPKDVLVRWLQGSQELPREKYLTWASRQEPSQGTTTYAVTSILRVAAEDWKKGETFSCMVGHEALPLAFTQKTIDRLAGKPTHINVSVVMAEADGTCY
|
| UniProt AC: |
P0DOX2
|
| UniProt ID: |
IGA2_HUMAN
|
| AmyPro: |
|
|
| Co-deposited Proteins: |
| Primary Name: |
Apolipoprotein E
|
| Gene Name: |
APOE
|
| Association Source: |
20876678
|
| Protein Names: |
Apolipoprotein E (Apo-E)
|
| Protein Length: |
317
|
| Protein Sequence: |
MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH
|
| UniProt AC: |
P02649
|
| UniProt ID: |
APOE_HUMAN
|
| Primary Name: |
Serum amyloid P-component
|
| Gene Name: |
APCS
|
| Association Source: |
20876678
|
| Protein Names: |
Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]
|
| Protein Length: |
223
|
| Protein Sequence: |
MNKPLLWISVLTSLLEAFAHTDLSGKVFVFPRESVTDHVNLITPLEKPLQNFTLCFRAYSDLSRAYSLFSYNTQGRDNELLVYKERVGEYSLYIGRHKVTSKVIEKFPAPVHICVSWESSSGIAEFWINGTPLVKKGLRQGYFVEAQPKIVLGQEQDSYGGKFDRSQSFVGEIGDLYMWDSVLPPENILSAYQGTPLPANILDWQALNYEIRGYVIIKPLVWV
|
| UniProt AC: |
P02743
|
| UniProt ID: |
SAMP_HUMAN
|
|
