Variant position: 199 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human HVDALRTHLAPYSDELRQRL AARLEALKENGGARLAEYHAK
Gorilla HVDALRTHLAPYSDELRQRL AARLEALKENGGARLAEYHAK
Rhesus macaque HVDALRTHLAPYSDELRQRL AARLEALKENGGARLAEYHAK
Chimpanzee HVDALRTHLAPYSDELRQRL AARLEALKENGGARLAEYHAK
Mouse HVDSLRTQLAPHSEQMRESL AQRLAELKSN--PTLNEYHTR
Rat NADALRAKFGLYSDQMRENL AQRLTEIKNH--PTLIEYHTK
Pig HVEALRQHVAPYSDDLRQRM AARFEALKEGGGS-LAEYQAK
Bovine HVETLRQQLAPYSDDLRQRL TARLEALKEGGGS-LAEYHAK
Rabbit HVDTLRTKLAPYSNELQQRL AARLESIKEGGGASLAEYQAK
Chicken HVEELRKNLAPYSDELRQKL SQKLEEIREKGIPQASEYQAK
Zebrafish NIEETKSKVVPMVEAVRTKL TERLEDLRTMAAPYAEEYKEQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
Lachmann H.J.; Booth D.R.; Booth S.E.; Bybee A.; Gilbertson J.A.; Gillmore J.D.; Pepys M.B.; Hawkins P.N.;
N. Engl. J. Med. 346:1786-1791(2002)
Cited for: VARIANTS AMYL8 ARG-50 AND PRO-199;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.