(used for variant description)
(last modified May 3, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004208.3 in the AIFM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013217.1, covering AIFM1 transcript NM_004208.3.
(upstream sequence)
. . . . . g.4998
aatgcggcagcgagtgctacgcctgcgcagtaggcctccggtcgccgttcc c.-181
. . . . . . g.5058
ccttccccggctctagcaggccggcttctctgtccaatgcccacccggagctgggaggag c.-121
. . . . . . g.5118
gagtctgcgtaatgtgcgtgtgaagagactgggggagctggccggggctcacggtgtttg c.-61
. . . . . . g.5178
acccgtcggtcgtgcgtgagaggaaagggaaggaggaggtcccgaatagcggtcgccgaa c.-1
. . . . . . g.5238
ATGTTCCGGTGTGGAGGCCTGGCGGCGGGTGCTTTGAAGCAGAAGCTGGTGCCCTTGGTG c.60
M F R C G G L A A G A L K Q K L V P L V p.20
. . . . | 02 . . g.14245
CGGACCGTGTGCGTCCGAAGCCCGAGGCAGAGGAACCGGCTCCCAG | GCAACTTGTTCCAG c.120
R T V C V R S P R Q R N R L P G | N L F Q p.40
. . . . . . g.14305
CGATGGCATGTTCCTCTAGAACTCCAGATGACAAGACAAATGGCTAGCTCTGGTGCATCA c.180
R W H V P L E L Q M T R Q M A S S G A S p.60
. . . . . . g.14365
GGGGGCAAAATCGATAATTCTGTGTTAGTCCTTATTGTGGGCTTATCAACAGTAGGAGCT c.240
G G K I D N S V L V L I V G L S T V G A p.80
| 03 . . . . . g.21316
GGTGCCTAT | GCCTACAAGACTATGAAAGAGGATGAAAAAAGATACAATGAAAGAATTTCA c.300
G A Y | A Y K T M K E D E K R Y N E R I S p.100
. . . . | 04 . g.22968
GGGTTAGGGCTGACACCAGAACAGAAACAGAAAAAGGCCGCGTTATCTG | CTTCAGAAGGA c.360
G L G L T P E Q K Q K K A A L S A | S E G p.120
. . . . . . g.23028
GAGGAAGTTCCTCAAGACAAGGCGCCAAGTCATGTTCCTTTCCTGCTAATTGGTGGAGGC c.420
E E V P Q D K A P S H V P F L L I G G G p.140
. . . . . | 05 . g.23216
ACAGCTGCTTTTGCTGCAGCCAGATCCATCCGGGCTCGGGATCCTGGGGCCAGG | GTACTG c.480
T A A F A A A R S I R A R D P G A R | V L p.160
. . . . . . g.23276
ATTGTATCTGAAGATCCTGAGCTGCCGTACATGCGACCTCCTCTTTCAAAAGAACTGTGG c.540
I V S E D P E L P Y M R P P L S K E L W p.180
. . . . . . g.23336
TTTTCAGATGACCCAAATGTCACAAAGACACTGCGATTCAAACAGTGGAATGGAAAAGAG c.600
F S D D P N V T K T L R F K Q W N G K E p.200
| 06 . . . . . . g.25319
AGAAG | CATATATTTCCAGCCACCTTCTTTCTATGTCTCTGCTCAGGACCTGCCTCATATT c.660
R S | I Y F Q P P S F Y V S A Q D L P H I p.220
. . . | 07 . . . g.30240
GAGAATGGTGGTGTGGCTGTCCTCACTGGGAAGAAG | GTAGTACAGCTGGATGTGAGAGAC c.720
E N G G V A V L T G K K | V V Q L D V R D p.240
. . . . . . g.30300
AACATGGTGAAACTTAATGATGGCTCTCAAATAACCTATGAAAAGTGCTTGATTGCAACA c.780
N M V K L N D G S Q I T Y E K C L I A T p.260
| 08 . . . . . . g.31021
G | GAGGTACTCCAAGAAGTCTGTCTGCCATTGATAGGGCTGGAGCAGAGGTGAAGAGTAGA c.840
G | G T P R S L S A I D R A G A E V K S R p.280
. | 09 . . . . g.32174
ACAACGCTTTTCAGAAAG | ATTGGAGACTTTAGAAGCTTGGAGAAGATTTCACGGGAAGTC c.900
T T L F R K | I G D F R S L E K I S R E V p.300
. . . . . . g.32234
AAATCAATTACGATTATCGGTGGGGGCTTCCTTGGTAGCGAACTGGCCTGTGCTCTTGGC c.960
K S I T I I G G G F L G S E L A C A L G p.320
| 10. . . . . . g.33701
AGAAAGG | CTCGAGCCTTGGGCACAGAAGTGATTCAACTCTTCCCCGAGAAAGGAAATATG c.1020
R K A | R A L G T E V I Q L F P E K G N M p.340
. . . . . | 11 . g.34107
GGAAAGATCCTCCCCGAATACCTCAGCAACTGGACCATGGAAAAAGTCAGACGAG | AGGGG c.1080
G K I L P E Y L S N W T M E K V R R E | G p.360
. . . . . . g.34167
GTTAAGGTGATGCCCAATGCTATTGTGCAATCCGTTGGAGTCAGCAGTGGCAAGTTACTT c.1140
V K V M P N A I V Q S V G V S S G K L L p.380
. . | 12 . . . . g.34684
ATCAAGCTGAAAGACGGCAGGAAG | GTAGAAACTGACCACATAGTGGCAGCTGTGGGCCTG c.1200
I K L K D G R K | V E T D H I V A A V G L p.400
. . . . . . g.34744
GAGCCCAATGTTGAGTTGGCCAAGACTGGTGGCCTGGAAATAGACTCAGATTTTGGTGGC c.1260
E P N V E L A K T G G L E I D S D F G G p.420
. . . . | 13 . . g.37393
TTCCGGGTAAATGCAGAGCTACAAGCACGCTCTAACATCTGGGTG | GCAGGAGATGCTGCA c.1320
F R V N A E L Q A R S N I W V | A G D A A p.440
. . . . . . g.37453
TGCTTCTACGATATAAAGTTGGGAAGGAGGCGGGTAGAGCACCATGATCACGCTGTTGTG c.1380
C F Y D I K L G R R R V E H H D H A V V p.460
. . . . . . g.37513
AGTGGAAGATTGGCTGGAGAAAATATGACTGGAGCTGCTAAGCCGTACTGGCATCAGTCA c.1440
S G R L A G E N M T G A A K P Y W H Q S p.480
| 14 . . . . . g.39086
ATGTTCTG | GAGTGATTTGGGCCCCGATGTTGGCTATGAAGCTATTGGTCTTGTGGACAGT c.1500
M F W | S D L G P D V G Y E A I G L V D S p.500
. . . . . . g.39146
AGTTTGCCCACAGTTGGTGTTTTTGCAAAAGCAACTGCACAAGACAACCCCAAATCTGCC c.1560
S L P T V G V F A K A T A Q D N P K S A p.520
. | 15 . . . . . g.40714
ACAGAGCAGTCAG | GAACTGGTATCCGATCAGAGAGTGAGACAGAGTCCGAGGCCTCAGAA c.1620
T E Q S G | T G I R S E S E T E S E A S E p.540
. . . . . . g.40774
ATTACTATTCCTCCCAGCACCCCGGCAGTTCCACAGGCTCCCGTCCAGGGGGAGGACTAC c.1680
I T I P P S T P A V P Q A P V Q G E D Y p.560
. . . . . . g.40834
GGCAAAGGTGTCATCTTCTACCTCAGGGACAAAGTGGTCGTGGGGATTGTGCTATGGAAC c.1740
G K G V I F Y L R D K V V V G I V L W N p.580
. . . | 16 . . . g.41235
ATCTTTAACCGAATGCCAATAGCAAGGAAG | ATCATTAAGGACGGTGAGCAGCATGAAGAT c.1800
I F N R M P I A R K | I I K D G E Q H E D p.600
. . . . g.41277
CTCAATGAAGTAGCCAAACTATTCAACATTCATGAAGACTGA c.1842
L N E V A K L F N I H E D X p.613
. . . . . . g.41337
agccccacagtggaattggcaaacccactgcagcccctgagaggaggtcgaatgggtaaa c.*60
. . . . . . g.41397
ggagcatttttttattcagcagactttctctgtgtatgagtgtgaatgatcaagtccttt c.*120
. . . . . . g.41457
gtgaatattttcaactatgtaggtaaattcttaatgttcacatagtgaaataaattctga c.*180
. g.41472
ttcttctaaattaaa c.*195
(downstream sequence)
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