Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18991 | 57196;57197;57198 | chr2:178598646;178598645;178598644 | chr2:179463373;179463372;179463371 |
| N2AB | 17350 | 52273;52274;52275 | chr2:178598646;178598645;178598644 | chr2:179463373;179463372;179463371 |
| N2A | 16423 | 49492;49493;49494 | chr2:178598646;178598645;178598644 | chr2:179463373;179463372;179463371 |
| N2B | 9926 | 30001;30002;30003 | chr2:178598646;178598645;178598644 | chr2:179463373;179463372;179463371 |
| Novex-1 | 10051 | 30376;30377;30378 | chr2:178598646;178598645;178598644 | chr2:179463373;179463372;179463371 |
| Novex-2 | 10118 | 30577;30578;30579 | chr2:178598646;178598645;178598644 | chr2:179463373;179463372;179463371 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1359328880  |
-1.674 | 1.0 | N | 0.806 | 0.27 | 0.226586394389 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1359328880 |
-1.674 | 1.0 | N | 0.806 | 0.27 | 0.226586394389 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1359328880 |
-1.674 | 1.0 | N | 0.806 | 0.27 | 0.226586394389 | gnomAD-4.0.0 | 1.31671E-05 | None | None | None | None | I | None | 2.41733E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47137E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2947 | likely_benign | 0.2945 | benign | -0.871 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.477925697 | None | None | I |
| G/C | 0.5674 | likely_pathogenic | 0.5558 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.517554475 | None | None | I |
| G/D | 0.8319 | likely_pathogenic | 0.6849 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.469050059 | None | None | I |
| G/E | 0.814 | likely_pathogenic | 0.7432 | pathogenic | -2.114 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/F | 0.8694 | likely_pathogenic | 0.8673 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/H | 0.9004 | likely_pathogenic | 0.8652 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/I | 0.8349 | likely_pathogenic | 0.845 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/K | 0.9484 | likely_pathogenic | 0.9364 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/L | 0.773 | likely_pathogenic | 0.7484 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.8285 | likely_pathogenic | 0.8356 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.8107 | likely_pathogenic | 0.7591 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/P | 0.989 | likely_pathogenic | 0.9851 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/Q | 0.8552 | likely_pathogenic | 0.8224 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/R | 0.9027 | likely_pathogenic | 0.8877 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.486826467 | None | None | I |
| G/S | 0.1731 | likely_benign | 0.1722 | benign | -1.374 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.488691826 | None | None | I |
| G/T | 0.5398 | ambiguous | 0.5557 | ambiguous | -1.349 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/V | 0.7504 | likely_pathogenic | 0.7613 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.494588374 | None | None | I |
| G/W | 0.8904 | likely_pathogenic | 0.8552 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/Y | 0.8414 | likely_pathogenic | 0.812 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.808 | deleterious | 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.