Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9953 | 30082;30083;30084 | chr2:178704615;178704614;178704613 | chr2:179569342;179569341;179569340 |
| N2AB | 9636 | 29131;29132;29133 | chr2:178704615;178704614;178704613 | chr2:179569342;179569341;179569340 |
| N2A | 8709 | 26350;26351;26352 | chr2:178704615;178704614;178704613 | chr2:179569342;179569341;179569340 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | rs770212603  |
-0.561 | 1.0 | None | 0.685 | 0.59 | 0.606672344029 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | I | None | 0 | 8.56E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | rs770212603 |
-0.561 | 1.0 | None | 0.685 | 0.59 | 0.606672344029 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs770212603 |
-0.561 | 1.0 | None | 0.685 | 0.59 | 0.606672344029 | gnomAD-4.0.0 | 3.7207E-06 | None | None | None | None | I | None | 0 | 1.00287E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1201726118 |
-0.695 | 1.0 | None | 0.655 | 0.387 | 0.254761474806 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/D | rs1201726118 |
-0.695 | 1.0 | None | 0.655 | 0.387 | 0.254761474806 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1201726118 |
-0.695 | 1.0 | None | 0.655 | 0.387 | 0.254761474806 | gnomAD-4.0.0 | 9.13453E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.08442E-05 | 0 | 0 |
| G/S | rs770212603 |
-0.213 | 1.0 | None | 0.655 | 0.402 | 0.262662153117 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs770212603 |
-0.213 | 1.0 | None | 0.655 | 0.402 | 0.262662153117 | gnomAD-4.0.0 | 6.84735E-07 | None | None | None | None | I | None | 0 | 2.24457E-05 | None | 0 | 0 | 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 | 0.503 | ambiguous | 0.4484 | ambiguous | -0.274 | Destabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | I |
| G/C | 0.7305 | likely_pathogenic | 0.6693 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/D | 0.461 | ambiguous | 0.3824 | ambiguous | -1.015 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| G/E | 0.6058 | likely_pathogenic | 0.5077 | ambiguous | -1.182 | Destabilizing | 0.991 | D | 0.464 | neutral | None | None | None | None | I |
| G/F | 0.9653 | likely_pathogenic | 0.9497 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/H | 0.7427 | likely_pathogenic | 0.7316 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| G/I | 0.9388 | likely_pathogenic | 0.9013 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| G/K | 0.6481 | likely_pathogenic | 0.6222 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/L | 0.9229 | likely_pathogenic | 0.8988 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/M | 0.9356 | likely_pathogenic | 0.9117 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| G/N | 0.4951 | ambiguous | 0.4832 | ambiguous | -0.45 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/P | 0.9918 | likely_pathogenic | 0.9841 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/Q | 0.6602 | likely_pathogenic | 0.6171 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/R | 0.5644 | likely_pathogenic | 0.5103 | ambiguous | -0.39 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/S | 0.2701 | likely_benign | 0.2327 | benign | -0.497 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| G/T | 0.7497 | likely_pathogenic | 0.6572 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| G/V | 0.8878 | likely_pathogenic | 0.8226 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| G/W | 0.9099 | likely_pathogenic | 0.8397 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/Y | 0.9024 | likely_pathogenic | 0.8684 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.696 | prob.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.