Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33005 | 99238;99239;99240 | chr2:178538816;178538815;178538814 | chr2:179403543;179403542;179403541 |
| N2AB | 31364 | 94315;94316;94317 | chr2:178538816;178538815;178538814 | chr2:179403543;179403542;179403541 |
| N2A | 30437 | 91534;91535;91536 | chr2:178538816;178538815;178538814 | chr2:179403543;179403542;179403541 |
| N2B | 23940 | 72043;72044;72045 | chr2:178538816;178538815;178538814 | chr2:179403543;179403542;179403541 |
| Novex-1 | 24065 | 72418;72419;72420 | chr2:178538816;178538815;178538814 | chr2:179403543;179403542;179403541 |
| Novex-2 | 24132 | 72619;72620;72621 | chr2:178538816;178538815;178538814 | chr2:179403543;179403542;179403541 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1428961102  |
-1.588 | 0.001 | N | 0.442 | 0.213 | 0.31501682445 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | rs1428961102 |
-1.588 | 0.001 | N | 0.442 | 0.213 | 0.31501682445 | gnomAD-4.0.0 | 2.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.4099E-06 | 0 | 0 |
| L/P | rs1262695858 |
-1.863 | 0.912 | N | 0.785 | 0.424 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| L/P | rs1262695858 |
-1.863 | 0.912 | N | 0.785 | 0.424 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | rs1262695858 |
-1.863 | 0.912 | N | 0.785 | 0.424 | None | gnomAD-4.0.0 | 8.69426E-06 | None | None | None | None | N | None | 0 | 1.67476E-05 | None | 0 | 0 | None | 0 | 0 | 1.10382E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.5422 | ambiguous | 0.6702 | pathogenic | -2.217 | Highly Destabilizing | 0.207 | N | 0.659 | neutral | None | None | None | None | N |
| L/C | 0.7866 | likely_pathogenic | 0.8357 | pathogenic | -1.456 | Destabilizing | 0.981 | D | 0.695 | prob.neutral | None | None | None | None | N |
| L/D | 0.9807 | likely_pathogenic | 0.9904 | pathogenic | -2.207 | Highly Destabilizing | 0.818 | D | 0.784 | deleterious | None | None | None | None | N |
| L/E | 0.9168 | likely_pathogenic | 0.9533 | pathogenic | -2.066 | Highly Destabilizing | 0.818 | D | 0.773 | deleterious | None | None | None | None | N |
| L/F | 0.3671 | ambiguous | 0.4879 | ambiguous | -1.302 | Destabilizing | 0.001 | N | 0.442 | neutral | N | 0.494247477 | None | None | N |
| L/G | 0.8908 | likely_pathogenic | 0.9408 | pathogenic | -2.693 | Highly Destabilizing | 0.818 | D | 0.761 | deleterious | None | None | None | None | N |
| L/H | 0.8988 | likely_pathogenic | 0.9381 | pathogenic | -2.127 | Highly Destabilizing | 0.975 | D | 0.769 | deleterious | D | 0.535611002 | None | None | N |
| L/I | 0.0742 | likely_benign | 0.0917 | benign | -0.889 | Destabilizing | 0.001 | N | 0.261 | neutral | N | 0.484012017 | None | None | N |
| L/K | 0.9166 | likely_pathogenic | 0.9536 | pathogenic | -1.685 | Destabilizing | 0.818 | D | 0.737 | prob.delet. | None | None | None | None | N |
| L/M | 0.1336 | likely_benign | 0.1679 | benign | -0.787 | Destabilizing | 0.69 | D | 0.678 | prob.neutral | None | None | None | None | N |
| L/N | 0.8854 | likely_pathogenic | 0.9382 | pathogenic | -1.733 | Destabilizing | 0.932 | D | 0.785 | deleterious | None | None | None | None | N |
| L/P | 0.4675 | ambiguous | 0.6281 | pathogenic | -1.307 | Destabilizing | 0.912 | D | 0.785 | deleterious | N | 0.411901202 | None | None | N |
| L/Q | 0.8145 | likely_pathogenic | 0.8834 | pathogenic | -1.723 | Destabilizing | 0.932 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/R | 0.8991 | likely_pathogenic | 0.9369 | pathogenic | -1.299 | Destabilizing | 0.773 | D | 0.741 | deleterious | D | 0.535611002 | None | None | N |
| L/S | 0.8437 | likely_pathogenic | 0.9153 | pathogenic | -2.402 | Highly Destabilizing | 0.818 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/T | 0.4988 | ambiguous | 0.6355 | pathogenic | -2.131 | Highly Destabilizing | 0.388 | N | 0.735 | prob.delet. | None | None | None | None | N |
| L/V | 0.1008 | likely_benign | 0.1179 | benign | -1.307 | Destabilizing | 0.015 | N | 0.543 | neutral | N | 0.499226611 | None | None | N |
| L/W | 0.7714 | likely_pathogenic | 0.8583 | pathogenic | -1.612 | Destabilizing | 0.981 | D | 0.723 | prob.delet. | None | None | None | None | N |
| L/Y | 0.8346 | likely_pathogenic | 0.9065 | pathogenic | -1.341 | Destabilizing | 0.527 | D | 0.753 | deleterious | 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.