Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24106 | 72541;72542;72543 | chr2:178573816;178573815;178573814 | chr2:179438543;179438542;179438541 |
| N2AB | 22465 | 67618;67619;67620 | chr2:178573816;178573815;178573814 | chr2:179438543;179438542;179438541 |
| N2A | 21538 | 64837;64838;64839 | chr2:178573816;178573815;178573814 | chr2:179438543;179438542;179438541 |
| N2B | 15041 | 45346;45347;45348 | chr2:178573816;178573815;178573814 | chr2:179438543;179438542;179438541 |
| Novex-1 | 15166 | 45721;45722;45723 | chr2:178573816;178573815;178573814 | chr2:179438543;179438542;179438541 |
| Novex-2 | 15233 | 45922;45923;45924 | chr2:178573816;178573815;178573814 | chr2:179438543;179438542;179438541 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/T | rs1386956312  |
-0.529 | 0.999 | D | 0.675 | 0.718 | 0.529011059296 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/T | rs1386956312 |
-0.529 | 0.999 | D | 0.675 | 0.718 | 0.529011059296 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/T | rs1386956312 |
-0.529 | 0.999 | D | 0.675 | 0.718 | 0.529011059296 | gnomAD-4.0.0 | 2.56909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80132E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9931 | likely_pathogenic | 0.9907 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/C | 0.9364 | likely_pathogenic | 0.9258 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| N/D | 0.9948 | likely_pathogenic | 0.9936 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.596 | neutral | D | 0.5580194 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| N/F | 0.9982 | likely_pathogenic | 0.9969 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| N/G | 0.9834 | likely_pathogenic | 0.9755 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.545 | neutral | None | None | None | None | N |
| N/H | 0.9543 | likely_pathogenic | 0.9403 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.527192941 | None | None | N |
| N/I | 0.9827 | likely_pathogenic | 0.9771 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.559540337 | None | None | N |
| N/K | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.547423563 | None | None | N |
| N/L | 0.9683 | likely_pathogenic | 0.9552 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/M | 0.9918 | likely_pathogenic | 0.9893 | pathogenic | 0.701 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/P | 0.997 | likely_pathogenic | 0.9947 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| N/Q | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| N/R | 0.9973 | likely_pathogenic | 0.9961 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/S | 0.705 | likely_pathogenic | 0.6527 | pathogenic | -0.502 | Destabilizing | 0.999 | D | 0.568 | neutral | N | 0.498413489 | None | None | N |
| N/T | 0.9529 | likely_pathogenic | 0.9374 | pathogenic | -0.348 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | D | 0.55827289 | None | None | N |
| N/V | 0.9829 | likely_pathogenic | 0.9783 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9884 | likely_pathogenic | 0.982 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.541182593 | 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.