(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the APOL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering APOL1 transcript NM_003661.3.
(upstream sequence)
. . . . g.1048
gactttcactttccctttcgaattcctcggtatatcttggggactgga c.-121
. . . . . . g.1108
ggacctgtctggttattatacagacgcataactggaggtgggatccacacagctcagaac c.-61
. . . . . | 02 . g.2885
agctggatcttgctcagtctctgccaggggaagattccttg | gaggaggccctgcagcgac c.-1
. . . . | 03 . . g.5028
ATGGAGGGAGCTGCTTTGCTGAGAGTCTCTGTCCTCTGCATCTG | GATGAGTGCACTTTTC c.60
M E G A A L L R V S V L C I W | M S A L F p.20
. . . | 04 . . g.5270
CTTGGTGTGGGAGTGAGGGCAGAGGAAGCTGGAGCGAG | GGTGCAACAAAACGTTCCAAGT c.120
L G V G V R A E E A G A R | V Q Q N V P S p.40
. . . . . . g.5330
GGGACAGATACTGGAGATCCTCAAAGTAAGCCCCTCGGTGACTGGGCTGCTGGCACCATG c.180
G T D T G D P Q S K P L G D W A A G T M p.60
| 05. . . . . . g.9578
GACCCAG | AGAGCAGTATCTTTATTGAGGATGCCATTAAGTATTTCAAGGAAAAAGTGAGC c.240
D P E | S S I F I E D A I K Y F K E K V S p.80
. . . . . . g.9638
ACACAGAATCTGCTACTCCTGCTGACTGATAATGAGGCCTGGAACGGATTCGTGGCTGCT c.300
T Q N L L L L L T D N E A W N G F V A A p.100
. | 06 . . . . . g.13126
GCTGAACTGCCCAG | GAATGAGGCAGATGAGCTCCGTAAAGCTCTGGACAACCTTGCAAGA c.360
A E L P R | N E A D E L R K A L D N L A R p.120
. . . . . . g.13186
CAAATGATCATGAAAGACAAAAACTGGCACGATAAAGGCCAGCAGTACAGAAACTGGTTT c.420
Q M I M K D K N W H D K G Q Q Y R N W F p.140
. . . . . . g.13246
CTGAAAGAGTTTCCTCGGTTGAAAAGTGAGCTTGAGGATAACATAAGAAGGCTCCGTGCC c.480
L K E F P R L K S E L E D N I R R L R A p.160
. . . . . . g.13306
CTTGCAGATGGGGTTCAGAAGGTCCACAAAGGCACCACCATCGCCAATGTGGTGTCTGGC c.540
L A D G V Q K V H K G T T I A N V V S G p.180
. . . . . . g.13366
TCTCTCAGCATTTCCTCTGGCATCCTGACCCTCGTCGGCATGGGTCTGGCACCCTTCACA c.600
S L S I S S G I L T L V G M G L A P F T p.200
. . . . . . g.13426
GAGGGAGGCAGCCTTGTACTCTTGGAACCTGGGATGGAGTTGGGAATCACAGCCGCTTTG c.660
E G G S L V L L E P G M E L G I T A A L p.220
. . . . . . g.13486
ACCGGGATTACCAGCAGTACCATGGACTACGGAAAGAAGTGGTGGACACAAGCCCAAGCC c.720
T G I T S S T M D Y G K K W W T Q A Q A p.240
. . . . . . g.13546
CACGACCTGGTCATCAAAAGCCTTGACAAATTGAAGGAGGTGAGGGAGTTTTTGGGTGAG c.780
H D L V I K S L D K L K E V R E F L G E p.260
. . . . . . g.13606
AACATATCCAACTTTCTTTCCTTAGCTGGCAATACTTACCAACTCACACGAGGCATTGGG c.840
N I S N F L S L A G N T Y Q L T R G I G p.280
. . . . . . g.13666
AAGGACATCCGTGCCCTCAGACGAGCCAGAGCCAATCTTCAGTCAGTACCGCATGCCTCA c.900
K D I R A L R R A R A N L Q S V P H A S p.300
. . . . . . g.13726
GCCTCACGCCCCCGGGTCACTGAGCCAATCTCAGCTGAAAGCGGTGAACAGGTGGAGAGG c.960
A S R P R V T E P I S A E S G E Q V E R p.320
. . . . . . g.13786
GTTAATGAACCCAGCATCCTGGAAATGAGCAGAGGAGTCAAGCTCACGGATGTGGCCCCT c.1020
V N E P S I L E M S R G V K L T D V A P p.340
. . . . . . g.13846
GTAAGCTTCTTTCTTGTGCTGGATGTAGTCTACCTCGTGTACGAATCAAAGCACTTACAT c.1080
V S F F L V L D V V Y L V Y E S K H L H p.360
. . . . . . g.13906
GAGGGGGCAAAGTCAGAGACAGCTGAGGAGCTGAAGAAGGTGGCTCAGGAGCTGGAGGAG c.1140
E G A K S E T A E E L K K V A Q E L E E p.380
. . . . . g.13963
AAGCTAAACATTCTCAACAATAATTATAAGATTCTGCAGGCGGACCAAGAACTGTGA c.1197
K L N I L N N N Y K I L Q A D Q E L X p.398
. . . . . . g.14023
ccacagggcagggcagccaccaggagagatatgcctggcaggggccaggacaaaatgcaa c.*60
. . . . . . g.14083
acttttttttttttctgagacagagtcttgctctgtcgccaagttggagtgcaatggtgc c.*120
. . . . . . g.14143
gatctcagctcactgcaagctctgcctcccgtgttcaagcgattctcctgccttggcctc c.*180
. . . . . . g.14203
ccaagtagctgggactacaggcgcctaccaccatgcccagctaatttttgtatttttaat c.*240
. . . . . . g.14263
agagatggggtttcaccatgttggccaggatggtctcgatctcctgacctcttgatctgc c.*300
. . . . . . g.14323
ccaccttggcctcccaaagtgctgggattacaggcgtgagccatcgcttttgacccaaat c.*360
. . . . . . g.14383
gcaaacattttattagggggataaagagggtgaggtaaagtttatggaactgagtgttag c.*420
. . . . . . g.14443
ggactttggcatttccatagctgagcacagcaggggaggggttaatgcagatggcagtgc c.*480
. . . . . . g.14503
agcaaggagaaggcaggaacattggagcctgcaataagggaaaaatgggaactggagagt c.*540
. . . . . . g.14563
gtggggaatgggaagaagcagtttactttagactaaagaatatattggggggccgggtgt c.*600
. . . . . . g.14623
agtggctcatgcctgtaatccgagcactttgggaggccaaggcgggcggatcacgaggtc c.*660
. . . . . . g.14683
aggagatcgagaccatcctggctaacacagtgaaaccccgtctctactaaaaatacaaaa c.*720
. . . . . . g.14743
aattagccgggcatggtggcgggcgcctgtagttccagctaactgggcggctgaggcagg c.*780
. . . . . . g.14803
agaatggcgtgaacctgggaggtggagcttgcagtgagccgagatatcgccactgcactc c.*840
. . . . . . g.14863
cagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaaaaagaatatattgac c.*900
. . . . . . g.14923
ggaagaatagagaggaggcttgaaggaaccagcaatgagaaggccaggaaaagaaagagc c.*960
. . . . . . g.14983
tgaaaatggagaaagcccaagagttagaacagttggatacaggagaagaaacagcggctc c.*1020
. . . . . . g.15043
cactacagacccagccccaggttcaatgtcctccgaagaatgaagtctttccctggtgat c.*1080
. . . . . . g.15103
ggtcccctgccctgtctttccagcatccactctcccttgtcctcctgggggcatatctca c.*1140
. . . . . . g.15163
gtcaggcagcggcttcctgatgatggtcattggggtggttgtcatgtgatgggtcccctc c.*1200
. . . . . . g.15223
caggttactaaagggtgcatgtcccctgcttgaacactgaagggcaggtggtgggccatg c.*1260
. . . . . . g.15283
gccatggtccccagctgaggagcaggtgtccctgagaacccaaacttcccagagagtatg c.*1320
. . . . . . g.15343
tgagaaccaaccaatgaaaacagtcccatcgctcttacccggtaagtaaacagtcagaaa c.*1380
. . . . . . g.15403
attagcatgaaagcagtttagcattgggaggaagctcagatctctagagctgtcttgtcg c.*1440
. . . . . g.15461
ccgcccaggattgacctgtgtgtaagtcccaataaactcacctactcatcaagctgga c.*1498
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center