Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC30589397;9398;9399 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872
N2AB30589397;9398;9399 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872
N2A30589397;9398;9399 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872
N2B30129259;9260;9261 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872
Novex-130129259;9260;9261 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872
Novex-230129259;9260;9261 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872
Novex-330589397;9398;9399 chr2:178768147;178768146;178768145chr2:179632874;179632873;179632872

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATA
  • RefSeq wild type template codon: TAT
  • Domain: Ig-21
  • Domain position: 1
  • Structural Position: 1
  • Q(SASA): 0.7233
  • 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/L None None 0.993 N 0.385 0.243 0.28722502521 gnomAD-4.0.0 1.36822E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79861E-06 0 0
I/M rs1442547576 -0.364 1.0 N 0.595 0.235 0.267755039894 gnomAD-2.1.1 3.99E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
I/M rs1442547576 -0.364 1.0 N 0.595 0.235 0.267755039894 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
I/M rs1442547576 -0.364 1.0 N 0.595 0.235 0.267755039894 gnomAD-4.0.0 6.56953E-06 None None None None N None 2.41231E-05 0 None 0 0 None 0 0 0 0 0
I/R None None 1.0 N 0.678 0.505 0.630135089153 gnomAD-4.0.0 1.59075E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
I/T rs373657576 -0.524 1.0 N 0.546 0.476 0.473853734676 gnomAD-2.1.1 1.2E-05 None None None None N None 0 2.9E-05 None 0 1.09302E-04 None 0 None 0 0 0
I/T rs373657576 -0.524 1.0 N 0.546 0.476 0.473853734676 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.9216E-04 None 0 0 0 0 0
I/T rs373657576 -0.524 1.0 N 0.546 0.476 0.473853734676 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
I/T rs373657576 -0.524 1.0 N 0.546 0.476 0.473853734676 gnomAD-4.0.0 2.561E-06 None None None None N None 0 1.69417E-05 None 0 2.42777E-05 None 0 0 0 0 0
I/V rs759240786 -0.366 0.993 N 0.373 0.261 0.335910606209 gnomAD-2.1.1 1.2E-05 None None None None N None 0 0 None 0 0 None 0 None 9.24E-05 8.84E-06 0
I/V rs759240786 -0.366 0.993 N 0.373 0.261 0.335910606209 gnomAD-4.0.0 3.42056E-06 None None None None N None 0 0 None 0 0 None 5.61714E-05 0 8.99306E-07 0 1.65585E-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
I/A 0.902 likely_pathogenic 0.854 pathogenic -1.058 Destabilizing 0.999 D 0.551 neutral None None None None N
I/C 0.981 likely_pathogenic 0.9768 pathogenic -0.837 Destabilizing 1.0 D 0.607 neutral None None None None N
I/D 0.9959 likely_pathogenic 0.9938 pathogenic -0.159 Destabilizing 1.0 D 0.663 neutral None None None None N
I/E 0.9844 likely_pathogenic 0.9779 pathogenic -0.189 Destabilizing 1.0 D 0.664 neutral None None None None N
I/F 0.8284 likely_pathogenic 0.7598 pathogenic -0.755 Destabilizing 1.0 D 0.603 neutral None None None None N
I/G 0.9902 likely_pathogenic 0.9836 pathogenic -1.323 Destabilizing 1.0 D 0.665 neutral None None None None N
I/H 0.9889 likely_pathogenic 0.9829 pathogenic -0.528 Destabilizing 1.0 D 0.679 prob.neutral None None None None N
I/K 0.9704 likely_pathogenic 0.9586 pathogenic -0.606 Destabilizing 1.0 D 0.665 neutral N 0.400798512 None None N
I/L 0.4437 ambiguous 0.3855 ambiguous -0.441 Destabilizing 0.993 D 0.385 neutral N 0.34332637 None None N
I/M 0.4594 ambiguous 0.3994 ambiguous -0.485 Destabilizing 1.0 D 0.595 neutral N 0.366284758 None None N
I/N 0.9621 likely_pathogenic 0.9465 pathogenic -0.396 Destabilizing 1.0 D 0.677 prob.neutral None None None None N
I/P 0.9618 likely_pathogenic 0.9369 pathogenic -0.613 Destabilizing 1.0 D 0.678 prob.neutral None None None None N
I/Q 0.9796 likely_pathogenic 0.9696 pathogenic -0.545 Destabilizing 1.0 D 0.663 neutral None None None None N
I/R 0.9582 likely_pathogenic 0.9396 pathogenic -0.106 Destabilizing 1.0 D 0.678 prob.neutral N 0.40026578 None None N
I/S 0.9356 likely_pathogenic 0.9047 pathogenic -1.013 Destabilizing 1.0 D 0.627 neutral None None None None N
I/T 0.7252 likely_pathogenic 0.6445 pathogenic -0.915 Destabilizing 1.0 D 0.546 neutral N 0.40026578 None None N
I/V 0.1585 likely_benign 0.1478 benign -0.613 Destabilizing 0.993 D 0.373 neutral N 0.341815833 None None N
I/W 0.9865 likely_pathogenic 0.9793 pathogenic -0.772 Destabilizing 1.0 D 0.713 prob.delet. None None None None N
I/Y 0.9739 likely_pathogenic 0.9628 pathogenic -0.537 Destabilizing 1.0 D 0.602 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.