Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1794354052;54053;54054 chr2:178605468;178605467;178605466chr2:179470195;179470194;179470193
N2AB1630249129;49130;49131 chr2:178605468;178605467;178605466chr2:179470195;179470194;179470193
N2A1537546348;46349;46350 chr2:178605468;178605467;178605466chr2:179470195;179470194;179470193
N2B887826857;26858;26859 chr2:178605468;178605467;178605466chr2:179470195;179470194;179470193
Novex-1900327232;27233;27234 chr2:178605468;178605467;178605466chr2:179470195;179470194;179470193
Novex-2907027433;27434;27435 chr2:178605468;178605467;178605466chr2:179470195;179470194;179470193
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Fn3-18
  • Domain position: 82
  • Structural Position: 114
  • Q(SASA): 0.4499
  • Predicted PPI site: I

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/S None None 0.062 N 0.525 0.139 0.648878273322 gnomAD-4.0.0 6.85078E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00364E-07 0 0
I/T rs769817623 -0.426 None N 0.307 0.105 0.486494567076 gnomAD-2.1.1 8.08E-06 None None None None I None 0 2.91E-05 None 0 0 None 3.28E-05 None 0 0 0
I/T rs769817623 -0.426 None N 0.307 0.105 0.486494567076 gnomAD-4.0.0 7.53586E-06 None None None None I None 0 2.23884E-05 None 0 0 None 0 0 8.10328E-06 1.16214E-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 0.2108 likely_benign 0.2158 benign -0.507 Destabilizing 0.035 N 0.361 neutral None None None None I
I/C 0.5875 likely_pathogenic 0.5686 pathogenic -0.61 Destabilizing 0.824 D 0.442 neutral None None None None I
I/D 0.8098 likely_pathogenic 0.7626 pathogenic -0.056 Destabilizing 0.38 N 0.573 neutral None None None None I
I/E 0.6628 likely_pathogenic 0.6286 pathogenic -0.158 Destabilizing 0.38 N 0.571 neutral None None None None I
I/F 0.1727 likely_benign 0.1494 benign -0.608 Destabilizing 0.001 N 0.269 neutral N 0.470015638 None None I
I/G 0.6279 likely_pathogenic 0.6146 pathogenic -0.645 Destabilizing 0.38 N 0.555 neutral None None None None I
I/H 0.5761 likely_pathogenic 0.5367 ambiguous 0.05 Stabilizing 0.935 D 0.561 neutral None None None None I
I/K 0.4764 ambiguous 0.4489 ambiguous -0.198 Destabilizing 0.38 N 0.573 neutral None None None None I
I/L 0.1585 likely_benign 0.1489 benign -0.275 Destabilizing 0.012 N 0.303 neutral N 0.468418128 None None I
I/M 0.1108 likely_benign 0.1041 benign -0.336 Destabilizing 0.317 N 0.403 neutral N 0.509976749 None None I
I/N 0.411 ambiguous 0.3622 ambiguous -0.005 Destabilizing 0.317 N 0.576 neutral N 0.519806953 None None I
I/P 0.868 likely_pathogenic 0.8408 pathogenic -0.32 Destabilizing 0.555 D 0.575 neutral None None None None I
I/Q 0.5117 ambiguous 0.4861 ambiguous -0.24 Destabilizing 0.555 D 0.574 neutral None None None None I
I/R 0.3517 ambiguous 0.3192 benign 0.343 Stabilizing 0.38 N 0.573 neutral None None None None I
I/S 0.3534 ambiguous 0.3276 benign -0.46 Destabilizing 0.062 N 0.525 neutral N 0.485310378 None None I
I/T 0.1632 likely_benign 0.1597 benign -0.453 Destabilizing None N 0.307 neutral N 0.512515622 None None I
I/V 0.079 likely_benign 0.0803 benign -0.32 Destabilizing None N 0.177 neutral N 0.407329597 None None I
I/W 0.7366 likely_pathogenic 0.6752 pathogenic -0.609 Destabilizing 0.935 D 0.589 neutral None None None None I
I/Y 0.5042 ambiguous 0.4632 ambiguous -0.347 Destabilizing 0.235 N 0.453 neutral None None None None I

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.