Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9726 | 29401;29402;29403 | chr2:178706698;178706697;178706696 | chr2:179571425;179571424;179571423 |
| N2AB | 9409 | 28450;28451;28452 | chr2:178706698;178706697;178706696 | chr2:179571425;179571424;179571423 |
| N2A | 8482 | 25669;25670;25671 | chr2:178706698;178706697;178706696 | chr2:179571425;179571424;179571423 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 0.822 | None | 0.646 | 0.313 | 0.645427016598 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs757364697  |
-0.042 | 0.006 | None | 0.271 | 0.068 | 0.438593652726 | gnomAD-2.1.1 | 5E-05 | None | None | None | None | I | None | 0 | 3.11738E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 4.2123E-04 |
| I/V | rs757364697 |
-0.042 | 0.006 | None | 0.271 | 0.068 | 0.438593652726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs757364697 |
-0.042 | 0.006 | None | 0.271 | 0.068 | 0.438593652726 | gnomAD-4.0.0 | 1.92384E-05 | None | None | None | None | I | None | 0 | 2.20406E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.69184E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5689 | likely_pathogenic | 0.4361 | ambiguous | -0.86 | Destabilizing | 0.754 | D | 0.616 | neutral | None | None | None | None | I |
| I/C | 0.9108 | likely_pathogenic | 0.8304 | pathogenic | -0.376 | Destabilizing | 0.994 | D | 0.639 | neutral | None | None | None | None | I |
| I/D | 0.8967 | likely_pathogenic | 0.7935 | pathogenic | -0.463 | Destabilizing | 0.993 | D | 0.714 | prob.delet. | None | None | None | None | I |
| I/E | 0.7829 | likely_pathogenic | 0.6662 | pathogenic | -0.565 | Destabilizing | 0.978 | D | 0.719 | prob.delet. | None | None | None | None | I |
| I/F | 0.355 | ambiguous | 0.2355 | benign | -0.927 | Destabilizing | 0.942 | D | 0.648 | neutral | None | None | None | None | I |
| I/G | 0.9236 | likely_pathogenic | 0.8354 | pathogenic | -1.047 | Destabilizing | 0.978 | D | 0.723 | prob.delet. | None | None | None | None | I |
| I/H | 0.7572 | likely_pathogenic | 0.599 | pathogenic | -0.443 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | I |
| I/K | 0.4402 | ambiguous | 0.3516 | ambiguous | -0.416 | Destabilizing | 0.978 | D | 0.717 | prob.delet. | None | None | None | None | I |
| I/L | 0.1401 | likely_benign | 0.1058 | benign | -0.48 | Destabilizing | 0.294 | N | 0.386 | neutral | None | None | None | None | I |
| I/M | 0.205 | likely_benign | 0.1533 | benign | -0.256 | Destabilizing | 0.942 | D | 0.635 | neutral | None | None | None | None | I |
| I/N | 0.564 | ambiguous | 0.3949 | ambiguous | -0.056 | Destabilizing | 0.99 | D | 0.714 | prob.delet. | None | None | None | None | I |
| I/P | 0.7439 | likely_pathogenic | 0.6316 | pathogenic | -0.573 | Destabilizing | 0.993 | D | 0.719 | prob.delet. | None | None | None | None | I |
| I/Q | 0.6477 | likely_pathogenic | 0.5009 | ambiguous | -0.347 | Destabilizing | 0.993 | D | 0.709 | prob.delet. | None | None | None | None | I |
| I/R | 0.4294 | ambiguous | 0.3152 | benign | 0.181 | Stabilizing | 0.978 | D | 0.714 | prob.delet. | None | None | None | None | I |
| I/S | 0.5859 | likely_pathogenic | 0.4264 | ambiguous | -0.496 | Destabilizing | 0.942 | D | 0.685 | prob.neutral | None | None | None | None | I |
| I/T | 0.4764 | ambiguous | 0.3704 | ambiguous | -0.496 | Destabilizing | 0.822 | D | 0.646 | neutral | None | None | None | None | I |
| I/V | 0.0981 | likely_benign | 0.0801 | benign | -0.573 | Destabilizing | 0.006 | N | 0.271 | neutral | None | None | None | None | I |
| I/W | 0.9309 | likely_pathogenic | 0.8562 | pathogenic | -0.946 | Destabilizing | 0.998 | D | 0.732 | prob.delet. | None | None | None | None | I |
| I/Y | 0.7488 | likely_pathogenic | 0.5949 | pathogenic | -0.689 | Destabilizing | 0.978 | D | 0.643 | 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.