Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5850 | 17773;17774;17775 | chr2:178731117;178731116;178731115 | chr2:179595844;179595843;179595842 |
| N2AB | 5533 | 16822;16823;16824 | chr2:178731117;178731116;178731115 | chr2:179595844;179595843;179595842 |
| N2A | 4606 | 14041;14042;14043 | chr2:178731117;178731116;178731115 | chr2:179595844;179595843;179595842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs753692209  |
0.04 | 0.994 | N | 0.579 | 0.321 | 0.460438652622 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| K/E | rs753692209 |
0.04 | 0.994 | N | 0.579 | 0.321 | 0.460438652622 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| K/E | rs753692209 |
0.04 | 0.994 | N | 0.579 | 0.321 | 0.460438652622 | gnomAD-4.0.0 | 2.29298E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.13634E-05 | 0 | 0 |
| K/N | rs1364212803 |
0.121 | 0.999 | N | 0.655 | 0.408 | 0.290590437066 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/N | rs1364212803 |
0.121 | 0.999 | N | 0.655 | 0.408 | 0.290590437066 | 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 |
| K/N | rs1364212803 |
0.121 | 0.999 | N | 0.655 | 0.408 | 0.290590437066 | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99514E-07 | 0 | 0 |
| K/R | None | None | 0.998 | N | 0.623 | 0.373 | 0.442054744378 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85869E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3045 | likely_benign | 0.2829 | benign | 0.074 | Stabilizing | 0.992 | D | 0.541 | neutral | None | None | None | None | I |
| K/C | 0.8505 | likely_pathogenic | 0.833 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| K/D | 0.5001 | ambiguous | 0.4715 | ambiguous | -0.112 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | I |
| K/E | 0.1351 | likely_benign | 0.1278 | benign | -0.112 | Destabilizing | 0.994 | D | 0.579 | neutral | N | 0.504582077 | None | None | I |
| K/F | 0.9142 | likely_pathogenic | 0.9072 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| K/G | 0.3739 | ambiguous | 0.3418 | ambiguous | -0.096 | Destabilizing | 0.999 | D | 0.544 | neutral | None | None | None | None | I |
| K/H | 0.4628 | ambiguous | 0.4463 | ambiguous | -0.283 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | I |
| K/I | 0.5852 | likely_pathogenic | 0.5778 | pathogenic | 0.441 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| K/L | 0.4846 | ambiguous | 0.4592 | ambiguous | 0.441 | Stabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | I |
| K/M | 0.3703 | ambiguous | 0.3599 | ambiguous | 0.078 | Stabilizing | 1.0 | D | 0.576 | neutral | N | 0.494722138 | None | None | I |
| K/N | 0.4279 | ambiguous | 0.4111 | ambiguous | 0.127 | Stabilizing | 0.999 | D | 0.655 | neutral | N | 0.493454691 | None | None | I |
| K/P | 0.3567 | ambiguous | 0.3192 | benign | 0.345 | Stabilizing | 0.269 | N | 0.349 | neutral | None | None | None | None | I |
| K/Q | 0.1571 | likely_benign | 0.1498 | benign | -0.01 | Destabilizing | 0.999 | D | 0.675 | neutral | N | 0.501581844 | None | None | I |
| K/R | 0.0854 | likely_benign | 0.0821 | benign | -0.081 | Destabilizing | 0.998 | D | 0.623 | neutral | N | 0.49370818 | None | None | I |
| K/S | 0.3695 | ambiguous | 0.3503 | ambiguous | -0.267 | Destabilizing | 0.996 | D | 0.603 | neutral | None | None | None | None | I |
| K/T | 0.2098 | likely_benign | 0.2025 | benign | -0.134 | Destabilizing | 0.998 | D | 0.571 | neutral | N | 0.505968943 | None | None | I |
| K/V | 0.46 | ambiguous | 0.4488 | ambiguous | 0.345 | Stabilizing | 0.999 | D | 0.572 | neutral | None | None | None | None | I |
| K/W | 0.8739 | likely_pathogenic | 0.8589 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| K/Y | 0.8069 | likely_pathogenic | 0.7974 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.611 | 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.