Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2826485015;85016;85017 chr2:178561342;178561341;178561340chr2:179426069;179426068;179426067
N2AB2662380092;80093;80094 chr2:178561342;178561341;178561340chr2:179426069;179426068;179426067
N2A2569677311;77312;77313 chr2:178561342;178561341;178561340chr2:179426069;179426068;179426067
N2B1919957820;57821;57822 chr2:178561342;178561341;178561340chr2:179426069;179426068;179426067
Novex-11932458195;58196;58197 chr2:178561342;178561341;178561340chr2:179426069;179426068;179426067
Novex-21939158396;58397;58398 chr2:178561342;178561341;178561340chr2:179426069;179426068;179426067
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATC
  • RefSeq wild type template codon: TAG
  • Domain: Fn3-94
  • Domain position: 13
  • Structural Position: 15
  • Q(SASA): 0.1837
  • 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
I/N None None 0.967 N 0.675 0.491 0.820480598388 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0

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
I/A 0.7352 likely_pathogenic 0.7437 pathogenic -1.945 Destabilizing 0.845 D 0.482 neutral None None None None N
I/C 0.8203 likely_pathogenic 0.8248 pathogenic -1.962 Destabilizing 0.999 D 0.518 neutral None None None None N
I/D 0.9681 likely_pathogenic 0.9677 pathogenic -2.369 Highly Destabilizing 0.975 D 0.663 neutral None None None None N
I/E 0.9219 likely_pathogenic 0.9158 pathogenic -2.326 Highly Destabilizing 0.975 D 0.663 neutral None None None None N
I/F 0.456 ambiguous 0.4557 ambiguous -1.557 Destabilizing 0.983 D 0.451 neutral N 0.486300397 None None N
I/G 0.9348 likely_pathogenic 0.9347 pathogenic -2.286 Highly Destabilizing 0.975 D 0.637 neutral None None None None N
I/H 0.8618 likely_pathogenic 0.8639 pathogenic -1.546 Destabilizing 0.999 D 0.666 neutral None None None None N
I/K 0.7216 likely_pathogenic 0.7083 pathogenic -1.434 Destabilizing 0.975 D 0.664 neutral None None None None N
I/L 0.2988 likely_benign 0.307 benign -1.044 Destabilizing 0.63 D 0.332 neutral N 0.520444458 None None N
I/M 0.221 likely_benign 0.2305 benign -1.134 Destabilizing 0.994 D 0.443 neutral N 0.500681669 None None N
I/N 0.7303 likely_pathogenic 0.7382 pathogenic -1.512 Destabilizing 0.967 D 0.675 neutral N 0.518025455 None None N
I/P 0.9713 likely_pathogenic 0.9678 pathogenic -1.318 Destabilizing 0.987 D 0.679 prob.neutral None None None None N
I/Q 0.8315 likely_pathogenic 0.8244 pathogenic -1.719 Destabilizing 0.987 D 0.681 prob.neutral None None None None N
I/R 0.642 likely_pathogenic 0.6244 pathogenic -0.886 Destabilizing 0.975 D 0.681 prob.neutral None None None None N
I/S 0.6875 likely_pathogenic 0.6971 pathogenic -2.1 Highly Destabilizing 0.805 D 0.524 neutral N 0.476639158 None None N
I/T 0.474 ambiguous 0.4855 ambiguous -1.936 Destabilizing 0.025 N 0.251 neutral N 0.471016844 None None N
I/V 0.0932 likely_benign 0.0916 benign -1.318 Destabilizing 0.426 N 0.345 neutral N 0.413602208 None None N
I/W 0.9469 likely_pathogenic 0.9503 pathogenic -1.673 Destabilizing 0.999 D 0.692 prob.neutral None None None None N
I/Y 0.8217 likely_pathogenic 0.8158 pathogenic -1.384 Destabilizing 0.996 D 0.53 neutral None None 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.