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MutDB Position: SWISS:VAR_002818
Symbol
Refseq RNA
Refseq Protein
Swiss-Prot Gene
dbSNP SNP
Swiss-Prot Var.
SNP Info
Annotation Info
Gene accession number:
P69905
Swiss-Prot Source:
VAR_002818
Swiss gene ID:
HBA_HUMAN
Phenotype:
in Turriff
Wild type amino acid:
K
Mutant amino acid:
E
Location:
99
SIFT Score:
(help?)
0.00
SIFT Prediction:
DELETERIOUS
Structures
PDB id
Chain id
Residue id
Insertion Code
Wild/ Mutant
Display
1a00
A
99
w
Display
1a00
C
99
w
Display
1a01
A
99
w
Display
1a01
C
99
w
Display
1a0u
A
99
w
Display
1a0u
C
99
w
Display
1a0z
A
99
w
Display
1a0z
C
99
w
Display
1a3n
A
99
w
Display
1a3n
C
99
w
Display
1a9w
A
99
w
Display
1a9w
C
99
w
Display
1abw
A
241
w
Display
1aby
A
241
w
Display
1b86
A
99
w
Display
1b86
C
499
w
Display
1bab
A
100
w
Display
1bab
C
100
w
Display
1bbb
A
99
w
Display
1bbb
C
99
w
Display
1bij
A
99
w
Display
1bij
C
99
w
Display
1buw
A
99
w
Display
1buw
C
99
w
Display
1bz0
A
99
w
Display
1bz0
C
99
w
Display
1bz1
A
100
w
Display
1bz1
C
100
w
Display
1c7c
A
241
w
Display
1c7d
A
242
w
Display
1cls
A
99
w
Display
1cls
C
99
w
Display
1cmy
A
99
w
Display
1cmy
C
99
w
Display
1coh
A
99
w
Display
1coh
C
99
w
Display
1dke
A
99
w
Display
1dke
C
99
w
Display
1dxt
A
99
w
Display
1dxt
C
99
w
Display
1dxu
A
99
w
Display
1dxu
C
99
w
Display
1dxv
A
99
w
Display
1dxv
C
99
w
Display
1fdh
A
99
w
Display
1fn3
A
99
w
Display
1fn3
C
99
w
Display
1g9v
A
99
w
Display
1g9v
C
499
w
Display
1gbu
A
99
w
Display
1gbu
C
99
w
Display
1gbv
A
99
w
Display
1gbv
C
99
w
Display
1gzx
A
99
w
Display
1gzx
C
499
w
Display
1hab
A
99
w
Display
1hab
C
99
w
Display
1hac
A
99
w
Display
1hac
C
99
w
Display
1hba
A
99
w
Display
1hba
C
99
w
Display
1hbb
A
99
w
Display
1hbb
C
99
w
Display
1hbs
A
99
w
Display
1hbs
C
99
w
Display
1hbs
E
99
w
Display
1hbs
G
99
w
Display
1hco
A
99
w
Display
1hdb
A
99
w
Display
1hdb
C
99
w
Display
1hga
A
99
w
Display
1hga
C
99
w
Display
1hgb
A
99
w
Display
1hgb
C
99
w
Display
1hgc
A
99
w
Display
1hgc
C
99
w
Display
1hho
A
99
w
Display
1ird
A
99
w
Display
1j3y
A
99
w
Display
1j3y
C
99
w
Display
1j3y
E
99
w
Display
1j3y
G
99
w
Display
1j3z
A
99
w
Display
1j3z
C
99
w
Display
1j3z
E
99
w
Display
1j3z
G
99
w
Display
1j40
A
99
w
Display
1j40
C
99
w
Display
1j40
E
99
w
Display
1j40
G
99
w
Display
1j41
A
99
w
Display
1j41
C
99
w
Display
1j41
E
99
w
Display
1j41
G
99
w
Display
1jy7
A
99
w
Display
1jy7
C
99
w
Display
1jy7
P
99
w
Display
1jy7
R
99
w
Display
1jy7
U
99
w
Display
1jy7
W
99
w
Display
1k0y
A
99
w
Display
1k0y
C
499
w
Display
1k1k
A
99
w
Display
1kd2
A
99
w
Display
1kd2
C
99
w
Display
1lfl
A
99
w
Display
1lfl
C
99
w
Display
1lfl
P
99
w
Display
1lfl
R
99
w
Display
1lfq
A
99
w
Display
1lft
A
99
w
Display
1lfv
A
99
w
Display
1lfy
A
99
w
Display
1lfz
A
99
w
Display
1ljw
A
99
w
Display
1m9p
A
99
w
Display
1m9p
C
99
w
Display
1mko
A
99
w
Display
1mko
C
99
w
Display
1nej
A
99
w
Display
1nej
C
99
w
Display
1nih
A
99
w
Display
1nih
C
99
w
Display
1nqp
A
99
w
Display
1nqp
C
99
w
Display
1o1p
A
241
w
Display
1qsh
A
99
w
Display
1qsh
C
99
w
Display
1qsi
A
99
w
Display
1qsi
C
99
w
Display
1qxd
A
99
w
Display
1qxd
C
99
w
Display
1qxe
A
99
w
Display
1qxe
C
99
w
Display
1rps
A
99
w
Display
1rps
C
99
w
Display
1rq3
A
99
w
Display
1rq3
C
99
w
Display
1rq4
A
99
w
Display
1rq4
C
99
w
Display
1rqa
A
99
w
Display
1rqa
C
99
w
Display
1sdk
A
99
w
Display
1sdk
C
99
w
Display
1sdl
A
99
w
Display
1sdl
C
99
w
Display
1shr
A
99
w
Display
1shr
C
99
w
Display
1si4
A
99
w
Display
1si4
C
99
w
Display
1thb
A
99
w
Display
1thb
C
99
w
Display
1uiw
A
99
w
Display
1uiw
C
99
w
Display
1uiw
E
99
w
Display
1uiw
G
99
w
Display
1xxt
A
99
w
Display
1xxt
C
99
w
Display
1xz2
A
99
w
Display
1xz2
C
99
w
Display
1y01
B
99
w
Display
1y0d
A
99
w
Display
1y0d
C
99
w
Display
1y0t
A
99
w
Display
1y0t
C
99
w
Display
1y0w
A
99
w
Display
1y0w
C
99
w
Display
1y22
A
99
w
Display
1y22
C
99
w
Display
1y2z
A
99
w
Display
1y2z
C
99
w
Display
1y31
A
99
w
Display
1y31
C
99
w
Display
1y35
A
99
w
Display
1y35
C
99
w
Display
1y45
A
99
w
Display
1y45
C
99
w
Display
1y46
A
99
w
Display
1y46
C
99
w
Display
1y4b
A
99
w
Display
1y4b
C
99
w
Display
1y4f
A
99
w
Display
1y4f
C
99
w
Display
1y4g
A
99
w
Display
1y4g
C
99
w
Display
1y4p
A
99
w
Display
1y4p
C
99
w
Display
1y4q
A
99
w
Display
1y4q
C
99
w
Display
1y4r
A
99
w
Display
1y4r
C
99
w
Display
1y4v
A
99
w
Display
1y4v
C
99
w
Display
1y5f
A
99
w
Display
1y5f
C
99
w
Display
1y5j
A
99
w
Display
1y5j
C
99
w
Display
1y5k
A
99
w
Display
1y5k
C
99
w
Display
1y7c
A
99
w
Display
1y7c
C
99
w
Display
1y7d
A
99
w
Display
1y7d
C
99
w
Display
1y7g
A
99
w
Display
1y7g
C
99
w
Display
1y7z
A
99
w
Display
1y7z
C
99
w
Display
1y83
A
99
w
Display
1y83
C
99
w
Display
1y85
A
99
w
Display
1y85
C
99
w
Display
1ye0
A
99
w
Display
1ye0
C
99
w
Display
1ye1
A
99
w
Display
1ye1
C
99
w
Display
1ye2
A
99
w
Display
1ye2
C
99
w
Display
1yen
A
99
w
Display
1yen
C
99
w
Display
1yeo
A
99
w
Display
1yeo
C
99
w
Display
1yeq
A
99
w
Display
1yeq
C
99
w
Display
1yeu
A
99
w
Display
1yeu
C
99
w
Display
1yev
A
99
w
Display
1yev
C
99
w
Display
1yff
A
99
w
Display
1yff
C
99
w
Display
1yff
E
99
w
Display
1yff
G
99
w
Display
1yg5
A
99
w
Display
1yg5
C
99
w
Display
1ygd
A
99
w
Display
1ygd
C
99
w
Display
1ygf
A
99
w
Display
1ygf
C
99
w
Display
1yh9
A
99
w
Display
1yh9
C
99
w
Display
1yhe
A
99
w
Display
1yhe
C
99
w
Display
1yhr
A
99
w
Display
1yhr
C
99
w
Display
1yie
A
99
w
Display
1yie
C
99
w
Display
1yih
A
99
w
Display
1yih
C
99
w
Display
1yvq
A
99
w
Display
1yvq
C
99
w
Display
1yvt
A
99
w
Display
1yzi
A
99
w
Display
1z8u
B
99
w
Display
1z8u
D
99
w
Display
2d5z
A
99
w
Display
2d5z
C
99
w
Display
2d60
A
99
w
Display
2d60
C
99
w
Display
2dn1
A
99
w
Display
2dn2
A
99
w
Display
2dn2
C
99
w
Display
2dn3
A
99
w
Display
2h35
A
99
w
Display
2h35
C
99
w
Display
2hbc
A
99
w
Display
2hbd
A
99
w
Display
2hbe
A
99
w
Display
2hbf
A
99
w
Display
2hbs
A
99
w
Display
2hbs
C
99
w
Display
2hbs
E
99
w
Display
2hbs
G
99
w
Display
2hco
A
99
w
Display
2hhb
A
99
w
Display
2hhb
C
99
w
Display
2hhd
A
99
w
Display
2hhd
C
99
w
Display
2hhe
A
99
w
Display
2hhe
C
99
w
Display
3hhb
A
99
w
Display
4hhb
A
99
w
Display
4hhb
C
99
w
Display
6hbw
A
99
w
Display
6hbw
C
99
w
Display
For further visualization, see
lifescienceweb.org
.
Sequence
This sequence was derived from Swiss-Prot entry:
P69905
VLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAV
AHVDDMPNALSALSDLHAHKLRVDPVNF
[ K -> E ]
LLSHCLLVTLAAHLPAEFTPAVHASLDKFL
ASVSTVLTSKYR
Back:
Gene: HBA1
->
Gene Index: H
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