Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1994560058;60059;60060 chr2:178592071;178592070;178592069chr2:179456798;179456797;179456796
N2AB1830455135;55136;55137 chr2:178592071;178592070;178592069chr2:179456798;179456797;179456796
N2A1737752354;52355;52356 chr2:178592071;178592070;178592069chr2:179456798;179456797;179456796
N2B1088032863;32864;32865 chr2:178592071;178592070;178592069chr2:179456798;179456797;179456796
Novex-11100533238;33239;33240 chr2:178592071;178592070;178592069chr2:179456798;179456797;179456796
Novex-21107233439;33440;33441 chr2:178592071;178592070;178592069chr2:179456798;179456797;179456796
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAC
  • RefSeq wild type template codon: TTG
  • Domain: Fn3-32
  • Domain position: 69
  • Structural Position: 102
  • Q(SASA): 0.3359
  • Predicted PPI site: N

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
N/I None None 0.81 N 0.451 0.154 0.460438652622 gnomAD-4.0.0 1.59294E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02773E-05
N/K None None 0.379 N 0.257 0.095 0.0806252709748 gnomAD-4.0.0 7.52974E-06 None None None None N None 0 2.23964E-05 None 0 0 None 0 0 8.09693E-06 0 1.65772E-05

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
N/A 0.1711 likely_benign 0.1567 benign -0.836 Destabilizing 0.25 N 0.269 neutral None None None None N
N/C 0.1327 likely_benign 0.1269 benign 0.045 Stabilizing 0.992 D 0.429 neutral None None None None N
N/D 0.2184 likely_benign 0.2368 benign -0.989 Destabilizing 0.549 D 0.295 neutral N 0.496527449 None None N
N/E 0.3587 ambiguous 0.3695 ambiguous -0.896 Destabilizing 0.617 D 0.243 neutral None None None None N
N/F 0.3275 likely_benign 0.3242 benign -0.59 Destabilizing 0.92 D 0.449 neutral None None None None N
N/G 0.2576 likely_benign 0.2311 benign -1.179 Destabilizing 0.25 N 0.283 neutral None None None None N
N/H 0.0781 likely_benign 0.0801 benign -0.989 Destabilizing 0.896 D 0.357 neutral N 0.419760176 None None N
N/I 0.1155 likely_benign 0.1109 benign 0.036 Stabilizing 0.81 D 0.451 neutral N 0.448312214 None None N
N/K 0.2434 likely_benign 0.2558 benign -0.428 Destabilizing 0.379 N 0.257 neutral N 0.415045003 None None N
N/L 0.1549 likely_benign 0.1519 benign 0.036 Stabilizing 0.447 N 0.391 neutral None None None None N
N/M 0.1965 likely_benign 0.1889 benign 0.612 Stabilizing 0.972 D 0.388 neutral None None None None N
N/P 0.8605 likely_pathogenic 0.8789 pathogenic -0.225 Destabilizing 0.92 D 0.409 neutral None None None None N
N/Q 0.2095 likely_benign 0.1969 benign -1.06 Destabilizing 0.85 D 0.35 neutral None None None None N
N/R 0.26 likely_benign 0.2773 benign -0.427 Destabilizing 0.617 D 0.356 neutral None None None None N
N/S 0.0724 likely_benign 0.0702 benign -0.999 Destabilizing 0.007 N 0.055 neutral N 0.426203359 None None N
N/T 0.0907 likely_benign 0.094 benign -0.728 Destabilizing 0.002 N 0.048 neutral N 0.334018343 None None N
N/V 0.1262 likely_benign 0.1212 benign -0.225 Destabilizing 0.447 N 0.405 neutral None None None None N
N/W 0.6173 likely_pathogenic 0.6262 pathogenic -0.399 Destabilizing 0.992 D 0.509 neutral None None None None N
N/Y 0.1116 likely_benign 0.1185 benign -0.185 Destabilizing 0.963 D 0.402 neutral N 0.496874166 None None N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.