Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18195 | 54808;54809;54810 | chr2:178604104;178604103;178604102 | chr2:179468831;179468830;179468829 |
| N2AB | 16554 | 49885;49886;49887 | chr2:178604104;178604103;178604102 | chr2:179468831;179468830;179468829 |
| N2A | 15627 | 47104;47105;47106 | chr2:178604104;178604103;178604102 | chr2:179468831;179468830;179468829 |
| N2B | 9130 | 27613;27614;27615 | chr2:178604104;178604103;178604102 | chr2:179468831;179468830;179468829 |
| Novex-1 | 9255 | 27988;27989;27990 | chr2:178604104;178604103;178604102 | chr2:179468831;179468830;179468829 |
| Novex-2 | 9322 | 28189;28190;28191 | chr2:178604104;178604103;178604102 | chr2:179468831;179468830;179468829 |
| 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/S | rs2054179912  |
None | 1.0 | N | 0.703 | 0.413 | 0.371903410333 | gnomAD-4.0.0 | 3.18767E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.55617E-05 | None | 0 | 0 | 0 | 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 | 0.7133 | likely_pathogenic | 0.5615 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.495399566 | None | None | I |
| G/C | 0.7995 | likely_pathogenic | 0.6901 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.525722727 | None | None | I |
| G/D | 0.821 | likely_pathogenic | 0.6924 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.508085771 | None | None | I |
| G/E | 0.8912 | likely_pathogenic | 0.7781 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/F | 0.9587 | likely_pathogenic | 0.9247 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9097 | likely_pathogenic | 0.8378 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/I | 0.9557 | likely_pathogenic | 0.903 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9117 | likely_pathogenic | 0.8243 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/L | 0.9293 | likely_pathogenic | 0.8704 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9505 | likely_pathogenic | 0.9072 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/N | 0.7726 | likely_pathogenic | 0.662 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/P | 0.9958 | likely_pathogenic | 0.9916 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.8572 | likely_pathogenic | 0.7557 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.8442 | likely_pathogenic | 0.7318 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.50579482 | None | None | I |
| G/S | 0.5142 | ambiguous | 0.3574 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.496222487 | None | None | I |
| G/T | 0.8767 | likely_pathogenic | 0.7631 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/V | 0.9343 | likely_pathogenic | 0.8556 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.525722727 | None | None | I |
| G/W | 0.9536 | likely_pathogenic | 0.9146 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.9249 | likely_pathogenic | 0.8674 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.769 | 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.