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AATVar
: a database of human alpha-1 antitrypsin variants
Search
1
- Mutation sequence analysis
Contributed by
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
Type of variation
AAT variant
Neutral SNP
Null allele
VSI
Mutation Location
3'-UTR
5'-UTR
Exon 1
Intron 1
Exon 2
Intron 2
Exon 3
Intron 3
Exon 4
Intron 4
Exon 5
Intron 5
not Within known transcription unit
Genetic background
M1
M1 Val
M1 Ala
M2
M3
M4
Other
Unknown
ACMG classification
Pathogenic
Likely pathogenic
Uncertain significance
Likely benign
Benign
2
- AAT variant and Q0 alleles
Variant name
Also Known as
pathogenicity
Neutral
Deficient
Precipitating
Dysfunctional
Unknown
HGVS nomenclature protéine
3D position of aa affected
Mobility on polyacrylamide gel
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Fast/Slow
Fast
Slow
Mobility on agarose gel
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Fast/Slow
Fast
Slow
3
- Occurrence
Ethnic background without frequency range
Unknown
Aborigine
Acadian
Afghan
African
African Yoruba
African-American
Albania
Algerian
Alsatian
American
American Indian
Anglo-Celtic
Anglo-Saxon
Arabian
Argentine
Armenian
Ashkenazi Jews
Asian
Asian Indian
Australian
Austrian
Azerbaijan
Babinga Pygmies
Bahrein
Balkan
Bangladesh
Bedouin
Belgian
Benin
Bete tribe
Black
Bosnian
Brazilian
British
Buginese
Bulgarian
Cambodian
Cameroonian
Canadian
Canary Islands
Cantonese
Caucasian
Central Asian
Chadian
Chilean
Chinese
Colombian
Congolese
Costa Rican
Cretan
Croatian
Cuban
Cypriot
Czech
Czechoslovakian
Dagestan
Danish
Dominican
Dutch
East Asian
East European
East German
East Indian
Egyptian
English
Ethiopian
European
Far East
Filipino
Finnish
French
French Canadian
French Caucasian
French West Indies
German
Ghanaian
Greek
Greek Cypriot
Guinean
Gypsy
Hindu
Hispanic
Hottentot
Hungarian
Indian
Indian Sikh
Indonesian
Iranian
Iraqi
Iraqi Jews
Irish
Israel
Italian
Ivory Coast
Jamaican
Japanese
Jewish
Jordan
Kalahari Bushman
Kashmiri Muslim
Kenyan
Khartoum
Kilengi
Korean
Koya Dora
Kurdish
Kurdish Jewish
Kuwaiti
Laotian
Lebanese
Libyan
Lithuanian Ashkenazi
Luxembourg
Macedonian
Madagascar
Maharashtran
Makassars
Malasian
Malay
Malaysian
Maltese
Maori
Mediterranean
Melanesian
Mexican
Moroccan
Mozambique
Nepali
Netherlands
New Zealand
Nicaraguan
Nigerian
Niuean
North African
North European
North Italian
Northern European
Northern Sardinia
Northwest African
Northwestern Indian
Norwegian
Nubian
Oman
Pakistani
Papuan
Pathan
Persian Gulf
Philippine
Polish
Polynesian
Pomak
Portuguese
Puerto Rican
Punjabi
Qara tribesman
Qatari
Reunion Island
Rumanian
Russian
Sardinian
Saudi Arabian
Scandinavian
Scottish
Sephardic Jewish
Serbian
Sicilian
Sikh
Singapore
Slovakian
South African
Southeast Asian
Southern Turkish
Spanish
Sudanese
Surinam
Swedish
Swiss
Syria
Taiwanese
Tajike
Tatar
Thai
Tuareg tribe
Tunisian
Turk
Turkish
Turkish Cypriots
Ugandan
Ukrainian
United Arab Emirates
Venezuelan
Vietnamese
Welsh
West African
West Indian
Western Kenyan
Yacouba
Yemenite
Yugoslavian
Zairian
Zambian
Graphical update of variants
