(used for variant description)
(last modified February 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_030642.1 in the APOL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering APOL5 transcript NM_030642.1.
(upstream sequence)
. . . . . | 02 . g.2701
ATGCCATGTGGCAAACAAGGAAATTTGCAAGTTCCCGGTTCCAAGGTGTTACCTG | GCTTG c.60
M P C G K Q G N L Q V P G S K V L P G | L p.20
. . . . . . g.2761
GGAGAAGGTTGTAAAGAAATGTGGCTTCGAAAGGTAATCTACGGAGGTGAGGTCTGGGGG c.120
G E G C K E M W L R K V I Y G G E V W G p.40
. . | 03 . . . . g.8377
AAGTCCCCAGAACCTGAGTTCC | CCTCACTCGTGAACCTGTGCCAGAGTTGGAAAATTAAC c.180
K S P E P E F P | S L V N L C Q S W K I N p.60
. . . . . . g.8437
AATTTGATGTCAACTGTCCACAGTGATGAGGCTGGTATGCTGTCCTACTTTCTGTTTGAA c.240
N L M S T V H S D E A G M L S Y F L F E p.80
. . . . . . g.8497
GAGCTGATGCGATGTGACAAAGATTCCATGCCAGATGGAAATCTGTCAGAGGAGGAAAAA c.300
E L M R C D K D S M P D G N L S E E E K p.100
. . . . . . g.8557
TTGTTTCTCTCATATTTTCCTTTGCACAAGTTTGAGCTAGAACAGAACATCAAAGAACTT c.360
L F L S Y F P L H K F E L E Q N I K E L p.120
. . . . . . g.8617
AACACCCTTGCGGACCAAGTTGACACCACTCACGAGTTGCTTACCAAGACCAGCCTGGTG c.420
N T L A D Q V D T T H E L L T K T S L V p.140
. . . . . . g.8677
GCCAGCTCTTCCGGGGCTGTTTCTGGGGTCATGAACATCCTGGGTTTGGCCCTAGCACCT c.480
A S S S G A V S G V M N I L G L A L A P p.160
. . . . . . g.8737
GTGACAGCAGGAGGCAGTCTCATGCTCTCAGCAACTGGGACAGGGTTGGGGGCAGCAGCT c.540
V T A G G S L M L S A T G T G L G A A A p.180
. . . . . . g.8797
GCCATCACCAACATAGTAACAAATGTCTTAGAAAATAGAAGCAATTCAGCAGCAAGAGAC c.600
A I T N I V T N V L E N R S N S A A R D p.200
. . . . . . g.8857
AAAGCCAGCCGACTGGGGCCTCTGACAACATCACATGAGGCTTTCGGAGGAATAAATTGG c.660
K A S R L G P L T T S H E A F G G I N W p.220
. . . . . . g.8917
TCTGAAATCGAGGCTGCTGGCTTTTGTGTTAATAAGTGTGTAAAAGCTATCCAGGGCATC c.720
S E I E A A G F C V N K C V K A I Q G I p.240
. . . . . . g.8977
AAGGATCTTCATGCCTACCAGATGGCCAAATCCAACTCTGGCTTCATGGCTATGGTCAAG c.780
K D L H A Y Q M A K S N S G F M A M V K p.260
. . . . . . g.9037
AATTTTGTGGCCAAGAGACACATCCCTTTCTGGACGGCTAGAGGGGTGCAGAGAGCCTTT c.840
N F V A K R H I P F W T A R G V Q R A F p.280
. . . . . . g.9097
GAGGGCACAACTCTGGCCATGACCAATGGTGCCTGGGTGATGGGTGCTGCTGGGGCTGGC c.900
E G T T L A M T N G A W V M G A A G A G p.300
. . . . . . g.9157
TTCTTACTTATGAAAGACATGAGCAGCTTCCTGCAGAGCTGGAAGCACCTGGAGGATGGG c.960
F L L M K D M S S F L Q S W K H L E D G p.320
. . . . . . g.9217
GCAAGGACGGAGACAGCAGAGGAACTGAGAGCACTTGCTAAGAAGCTGGAGCAGGAGCTG c.1020
A R T E T A E E L R A L A K K L E Q E L p.340
. . . . . . g.9277
GACCGGCTCACCCAGCACCACCGGCACCTGCCGCAGAAGGCGAGCCAGACCTGTTCCAGC c.1080
D R L T Q H H R H L P Q K A S Q T C S S p.360
. . . . | 04 . . g.10865
TCCCGGGGCAGGGCTGTTCGAGGATCCCGTGTGGTTAAACCAGAAG | GGTCTCGCTCACCT c.1140
S R G R A V R G S R V V K P E G | S R S P p.380
. . . . . . g.10925
CTCCCCTGGCCTGTTGTGGAGCACCAGCCTAGGCTGGGCCCTGGCGTGGCACTGAGGACA c.1200
L P W P V V E H Q P R L G P G V A L R T p.400
. . . . . . g.10985
CCAAAGAGGACAGTCTCTGCCCCAAGGATGCTTGGCCACCAGCCAGCCCCACCAGCACCA c.1260
P K R T V S A P R M L G H Q P A P P A P p.420
. . . . g.11027
GCAAGAAAGGGGAGACAGGCCCCGGGAAGACACCGACAATGA | c.1303
A R K G R Q A P G R H R Q X p.433
| 05 . . . . . . g.11536
gaagag | ttggtcaccctgtcaccactgaaccttgatttaacagaggcaaaatgcaagtct c.*60
. . . . . . g.11596
tccctgaagaatactgggggtagggaaacttctagtggcaatgataaaaccagcagcaat c.*120
. g.11612
gataatagaaggcaaa c.*136
(downstream sequence)
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