(used for variant description)
(last modified December 27, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_031433.3 in the MFRP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering MFRP transcript NM_031433.3.
(upstream sequence)
. . . . g.5040
actctaccaaggacagcccaagaactggtctagcctggca c.-121
. . . . . . g.5100
gccttttccctcgggtagtagaggctgcccctctgacagggagtttgtggtcagcgagtg c.-61
. . . . . . g.5160
ggcccttgggggtcttgggctgtcacagggactccagaaagccatgcagagccttgtgcc c.-1
. . . . . | 02 . g.5305
ATGAAGGACTTCTCAGATGTCATCCTCTGCATGGAGGCAACAGAATCGAGCAAG | ACCGAG c.60
M K D F S D V I L C M E A T E S S K | T E p.20
. . . . . . g.5365
TTCTGCAATCCTGCCTTCGAGCCTGAGTCTGGGCCACCCTGCCCTCCCCCAGTTTTCCCA c.120
F C N P A F E P E S G P P C P P P V F P p.40
. . . | 03. . . g.5537
GAGGATGCCAGCTACAGCGTCCCAGCTCCCTGGCATG | GTCGGCGTCCTCGAGGGCTACGG c.180
E D A S Y S V P A P W H G | R R P R G L R p.60
. . . . . . g.5597
CCAGACTGCCGCTTCTCCTGGCTCTGTGTCCTCCTGCTCTCCAGCCTGCTCCTCCTGCTG c.240
P D C R F S W L C V L L L S S L L L L L p.80
. . . | 04 . . . g.5774
CTTGGGCTGCTGGTGGCCATCATCCTGGCCC | AGCTGCAGGCTGCACCCCCATCTGGGGCG c.300
L G L L V A I I L A Q | L Q A A P P S G A p.100
. . . . . . g.5834
TCCCATAGCCCACTGCCTGCCGGAGGCCTTACCACGACCACCACCACCCCCACCATCACC c.360
S H S P L P A G G L T T T T T T P T I T p.120
. . . . . . g.5894
ACCTCTCAGGCAGCTGGGACCCCTAAAGGGCAGCAGGAGTCAGGCGTGAGCCCCTCCCCA c.420
T S Q A A G T P K G Q Q E S G V S P S P p.140
| 05. . . . . . g.6093
CAGTCCA | CCTGTGGAGGCCTCCTCTCTGGCCCAAGGGGCTTCTTCAGCAGCCCTAACTAC c.480
Q S T | C G G L L S G P R G F F S S P N Y p.160
. . . . . . g.6153
CCAGACCCTTACCCCCCCAACACCCACTGCGTGTGGCATATCCAGGTGGCCACAGACCAT c.540
P D P Y P P N T H C V W H I Q V A T D H p.180
. . . . . . g.6213
GCAATACAGCTCAAGATCGAAGCCCTCAGCATAGAGAGTGTGGCCTCTTGCCTTTTTGAT c.600
A I Q L K I E A L S I E S V A S C L F D p.200
. . . . | 06 . . g.6688
CGCTTGGAACTCTCCCCTGAGCCTGAAGGCCCCCTCCTCAG | GGTTTGTGGAAGGGTGCCT c.660
R L E L S P E P E G P L L R | V C G R V P p.220
. . . . . . g.6748
CCCCCCACGCTCAACACCAATGCCAGCCACCTCCTGGTGGTCTTCGTCTCTGACAGCAGT c.720
P P T L N T N A S H L L V V F V S D S S p.240
. . . . . | 07 . g.6924
GTGGAAGGATTTGGTTTCCATGCCTGGTACCAGGCTATGGCCCCTGGGCGCG | GGAGCTGT c.780
V E G F G F H A W Y Q A M A P G R G | S C p.260
. . . . . . g.6984
GCCCATGATGAGTTCCGCTGTGACCAGCTCATCTGCCTGCTACCTGACTCAGTGTGTGAT c.840
A H D E F R C D Q L I C L L P D S V C D p.280
. . . . . | 08 g.7284
GGTTTTGCCAACTGTGCTGACGGCAGTGATGAGACCAATTGCAGTGCCAAGTTCTCGG | GG c.900
G F A N C A D G S D E T N C S A K F S G | p.300
. . . . . . g.7344
TGTGGGGGGAATCTGACTGGCCTCCAGGGCACTTTCTCTACTCCCAGCTACCTGCAGCAG c.960
C G G N L T G L Q G T F S T P S Y L Q Q p.320
. | 09 . . . . . g.7754
TACCCTCACCAACTG | CTCTGCACCTGGCATATCTCGGTGCCTGCCGGACACAGCATAGAA c.1020
Y P H Q L | L C T W H I S V P A G H S I E p.340
. . . . . . g.7814
CTACAGTTCCACAACTTCAGCCTGGAGGCTCAGGACGAGTGCAAGTTTGACTACGTGGAG c.1080
L Q F H N F S L E A Q D E C K F D Y V E p.360
. . . . | 10 . . g.8686
GTGTATGAGACCAGCAGCTCAGGGGCCTTCAGCCTCCTGGGCAG | GTTCTGTGGAGCAGAG c.1140
V Y E T S S S G A F S L L G R | F C G A E p.380
. . . . . . g.8746
CCACCCCCCCACCTCGTCTCCTCGCACCATGAGCTGGCTGTGCTGTTTAGGACAGATCAT c.1200
P P P H L V S S H H E L A V L F R T D H p.400
. . . . . | 11 . g.8951
GGCATCAGCAGTGGAGGCTTCTCAGCCACCTACCTGGCCTTCAATGCCACGGAGA | ACCCC c.1260
G I S S G G F S A T Y L A F N A T E N | P p.420
. . . . . . g.9011
TGTGGGCCCAGTGAGCTCTCCTGCCAGGCAGGAGGGTGTAAGGGTGTGCAGTGGATGTGT c.1320
C G P S E L S C Q A G G C K G V Q W M C p.440
. . . . . . g.9071
GACATGTGGAGAGACTGCACCGATGGCAGCGATGACAACTGCAGCGGCCCCTTGTTCCCA c.1380
D M W R D C T D G S D D N C S G P L F P p.460
| 12. . . . . . g.9742
CCCCCAG | AGCTGGCCTGTGAGCCTGTCCAGGTGGAGATGTGCCTCGGTCTGAGCTACAAC c.1440
P P E | L A C E P V Q V E M C L G L S Y N p.480
. . . . . . g.9802
ACCACAGCCTTCCCTAACATCTGGGTGGGCATGATCACCCAGGAGGAGGTGGTAGAGGTC c.1500
T T A F P N I W V G M I T Q E E V V E V p.500
. | 13 . . . . . g.9946
CTCAGCGGTTACAAG | AGCCTGACAAGCCTGCCCTGCTACCAGCATTTCCGGAGGCTCCTG c.1560
L S G Y K | S L T S L P C Y Q H F R R L L p.520
. . . . . . g.10006
TGTGGGCTGCTTGTGCCCCGTTGCACCCCACTAGGCAGTGTTCTGCCCCCTTGCCGCTCT c.1620
C G L L V P R C T P L G S V L P P C R S p.540
. . . . . . g.10066
GTCTGCCAGGAAGCGGAGCACCAGTGCCAGTCTGGCCTGGCACTACTGGGCACCCCCTGG c.1680
V C Q E A E H Q C Q S G L A L L G T P W p.560
. . . . . . g.10126
CCCTTCAACTGCAACAGGCTGCCAGAGGCAGCTGACCTGGAAGCTTGTGCCCAGCCCTGA c.1740
P F N C N R L P E A A D L E A C A Q P X p.579
. . . . . . g.10186
ccctgaagccggcccctgccctcttcctgcccgtcctcttttgccggtcagggctggcac c.*60
. . . . . . g.10246
gcaggggaacaaaggaaggagcatcagcagggtctctacccatccttctctggggctccc c.*120
. . . . . . g.10306
agggagggggaagagaagtcctcagctggggctcatgggaccctaccaccctccctgctc c.*180
. . . . . . g.10366
cttcctgtccctttaccggtcccaggctgctgactggccccacactgtgccaccggacaa c.*240
. . . . . . g.10426
tcgagaccacttcccatccaggcctcttcccctttccatctgctttttcagcttctccat c.*300
. . . . . . g.10486
cgcctgccttctgaccttttccttgattcaacaaaaatgtactgagcatctattcatgtg c.*360
. . . . . . g.10546
gcaggcccctgtcctaggccctagggatccaactggctgtctgcctctagaactctccac c.*420
. . . . . . g.10606
cctcatctctctgcgtatttctccctgaaatggggtctggtccttggtctctgccactgc c.*480
. . . . . . g.10666
cctgcctctcctctggccctgggaacaggaggtgccctgtgtgtccgtctctcgaagttc c.*540
. . . . . . g.10726
tgcctctctgtgcccagctcaagtctctctccccctcctttctccccctaaactttggcc c.*600
. . . . . . g.10786
ggccgccgggcgacaccacgagttatttcccagctatttcccggtccgggagctcttggc c.*660
. . . . . . g.10846
ccctgaacaactggtttcctcttggagtctgggaggaggaaagcggagccggcagggagc c.*720
. . . . . . g.10906
gaaccaggactggggtgacggcagggcagggggcgcctggccggggagaagcgcgggggc c.*780
. . . . . . g.10966
tggagcaccaccaactggagggtccggagtagcgagcgccccgaaggaggccatcgggga c.*840
. | 14 . . . . . g.11280
gccgggagggggg | actgcgagaggaccccggcgtccgggctcccggtgccagcgctatga c.*900
. . . . . . g.11340
ggccactcctcgtcctgctgctcctgggcctggcggccggctcgcccccactggacgaca c.*960
. . . . . . g.11400
acaagatccccagcctctgcccggggcaccccggccttccaggcacgccgggccaccatg c.*1020
. . . . . . g.11460
gcagccagggcttgccgggccgcgatggccgcgacggccgcgacggcgcgcccggggctc c.*1080
. . . | 15 . . . g.11855
cgggagagaaaggcgagggcgggaggccgg | gactgccgggacctcgaggggaccccgggc c.*1140
. . . . . . g.11915
cgcgaggagaggcgggacccgcggggcccaccgggcctgccggggagtgctcggtgcctc c.*1200
. . . . . . g.11975
cgcgatccgccttcagcgccaagcgctccgagagccgggtgcctccgccgtctgacgcac c.*1260
. . . . . . g.12035
ccttgcccttcgaccgcgtgctggtgaacgagcagggacattacgacgccgtcaccggca c.*1320
. . . . . . g.12095
agttcacctgccaggtgcctggggtctactacttcgccgtccatgccaccgtctaccggg c.*1380
. . . . . . g.12155
ccagcctgcagtttgatctggtgaagaatggcgaatccattgcctctttcttccagtttt c.*1440
. . . . . . g.12215
tcggggggtggcccaagccagcctcgctctcggggggggccatggtgaggctggagcctg c.*1500
. . . . . . g.12275
aggaccaagtgtgggtgcaggtgggtgtgggtgactacattggcatctatgccagcatca c.*1560
. . . . . . g.12335
agacagacagcaccttctccggatttctggtgtactccgactggcacagctccccagtct c.*1620
. . . . . . g.12395
ttgcttagtgcccactgcaaagtgagctcatgctctcactcctagaaggagggtgtgagg c.*1680
. . . . . . g.12455
ctgacaaccaggtcatccaggagggctggcccccctggaatattgtgaatgactagggag c.*1740
. . . . . . g.12515
gtggggtagagcactctccgtcctgctgctggcaaggaatgggaacagtggctgtctgcg c.*1800
. . . . . . g.12575
atcaggtctggcagcatggggcagtggctggatttctgcccaagaccagaggagtgtgct c.*1860
. . . . . . g.12635
gtgctggcaagtgtaagtcccccagttgctctggtccaggagcccacggtggggtgctct c.*1920
. . . . . . g.12695
cttcctggtcctctgcttctctggatcctccccaccccctcctgctcctggggccggccc c.*1980
. . . . g.12740
ttttctcagagatcactcaataaacctaagaaccctcctaccggc c.*2025
(downstream sequence)
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