Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29409 | 88450;88451;88452 | chr2:178556929;178556928;178556927 | chr2:179421656;179421655;179421654 |
| N2AB | 27768 | 83527;83528;83529 | chr2:178556929;178556928;178556927 | chr2:179421656;179421655;179421654 |
| N2A | 26841 | 80746;80747;80748 | chr2:178556929;178556928;178556927 | chr2:179421656;179421655;179421654 |
| N2B | 20344 | 61255;61256;61257 | chr2:178556929;178556928;178556927 | chr2:179421656;179421655;179421654 |
| Novex-1 | 20469 | 61630;61631;61632 | chr2:178556929;178556928;178556927 | chr2:179421656;179421655;179421654 |
| Novex-2 | 20536 | 61831;61832;61833 | chr2:178556929;178556928;178556927 | chr2:179421656;179421655;179421654 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs756724511  |
-1.695 | 1.0 | D | 0.819 | 0.514 | 0.775207175258 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 2.67E-05 | 0 |
| R/C | rs756724511 |
-1.695 | 1.0 | D | 0.819 | 0.514 | 0.775207175258 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/C | rs756724511 |
-1.695 | 1.0 | D | 0.819 | 0.514 | 0.775207175258 | gnomAD-4.0.0 | 2.29288E-05 | None | None | None | None | N | None | 2.67023E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5427E-05 | 1.09782E-05 | 6.40471E-05 |
| R/H | rs753223608 |
-2.373 | 1.0 | N | 0.808 | 0.494 | 0.378674557249 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.15E-05 | None | 0 | None | 4E-05 | 4.69E-05 | 0 |
| R/H | rs753223608 |
-2.373 | 1.0 | N | 0.808 | 0.494 | 0.378674557249 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs753223608 |
-2.373 | 1.0 | N | 0.808 | 0.494 | 0.378674557249 | gnomAD-4.0.0 | 1.61121E-05 | None | None | None | None | N | None | 1.33479E-05 | 0 | None | 0 | 2.23174E-05 | None | 1.56221E-05 | 0 | 1.94944E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9806 | likely_pathogenic | 0.9681 | pathogenic | -2.159 | Highly Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| R/C | 0.6063 | likely_pathogenic | 0.4776 | ambiguous | -1.911 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.530371449 | None | None | N |
| R/D | 0.9977 | likely_pathogenic | 0.9966 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/E | 0.9643 | likely_pathogenic | 0.9531 | pathogenic | -1.004 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/F | 0.9888 | likely_pathogenic | 0.9821 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| R/G | 0.978 | likely_pathogenic | 0.9568 | pathogenic | -2.496 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.552741665 | None | None | N |
| R/H | 0.3894 | ambiguous | 0.2866 | benign | -2.165 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.511760215 | None | None | N |
| R/I | 0.9577 | likely_pathogenic | 0.9386 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| R/K | 0.5932 | likely_pathogenic | 0.4581 | ambiguous | -1.159 | Destabilizing | 0.998 | D | 0.659 | neutral | None | None | None | None | N |
| R/L | 0.9161 | likely_pathogenic | 0.8806 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.515265707 | None | None | N |
| R/M | 0.9604 | likely_pathogenic | 0.9373 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/N | 0.9893 | likely_pathogenic | 0.9833 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| R/P | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.552995154 | None | None | N |
| R/Q | 0.4547 | ambiguous | 0.3498 | ambiguous | -1.205 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/S | 0.9845 | likely_pathogenic | 0.9728 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.514505238 | None | None | N |
| R/T | 0.9743 | likely_pathogenic | 0.9549 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| R/V | 0.9633 | likely_pathogenic | 0.9442 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/W | 0.8115 | likely_pathogenic | 0.7504 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/Y | 0.9503 | likely_pathogenic | 0.9282 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
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.