Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
| N2AB | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
| N2A | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
| N2B | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
| Novex-1 | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
| Novex-2 | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
| Novex-3 | 94 | 505;506;507 | chr2:178802153;178802152;178802151 | chr2:179666880;179666879;179666878 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.993 | N | 0.494 | 0.335 | 0.483374165343 | gnomAD-4.0.0 | 6.84081E-07 | None | None | None | -0.674(TCAP) | N | None | 0 | 0 | None | 0 | 2.51927E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3109 | likely_benign | 0.391 | ambiguous | -0.915 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | N | 0.516222593 | None | -1.162(TCAP) | N |
| E/C | 0.9837 | likely_pathogenic | 0.9896 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -1.161(TCAP) | N |
| E/D | 0.2308 | likely_benign | 0.2924 | benign | -0.798 | Destabilizing | 0.993 | D | 0.494 | neutral | N | 0.509104154 | None | -0.674(TCAP) | N |
| E/F | 0.9006 | likely_pathogenic | 0.927 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -1.025(TCAP) | N |
| E/G | 0.483 | ambiguous | 0.5887 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.621324353 | None | -1.363(TCAP) | N |
| E/H | 0.729 | likely_pathogenic | 0.8069 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | -0.208(TCAP) | N |
| E/I | 0.6203 | likely_pathogenic | 0.6865 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | -0.574(TCAP) | N |
| E/K | 0.3732 | ambiguous | 0.4847 | ambiguous | -0.04 | Destabilizing | 1.0 | D | 0.604 | neutral | N | 0.468608038 | None | -1.32(TCAP) | N |
| E/L | 0.656 | likely_pathogenic | 0.7315 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | -0.574(TCAP) | N |
| E/M | 0.6866 | likely_pathogenic | 0.7497 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | 0.161(TCAP) | N |
| E/N | 0.4538 | ambiguous | 0.5641 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | -2.036(TCAP) | N |
| E/P | 0.9192 | likely_pathogenic | 0.9585 | pathogenic | -0.348 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | -0.764(TCAP) | N |
| E/Q | 0.2253 | likely_benign | 0.2796 | benign | -0.517 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.501354547 | None | -1.636(TCAP) | N |
| E/R | 0.5567 | ambiguous | 0.6565 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | -1.193(TCAP) | N |
| E/S | 0.3069 | likely_benign | 0.3922 | ambiguous | -0.833 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | -2.262(TCAP) | N |
| E/T | 0.3155 | likely_benign | 0.4051 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | -2.078(TCAP) | N |
| E/V | 0.3743 | ambiguous | 0.4377 | ambiguous | -0.348 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.51855116 | None | -0.764(TCAP) | N |
| E/W | 0.9708 | likely_pathogenic | 0.9801 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | -1.175(TCAP) | N |
| E/Y | 0.8478 | likely_pathogenic | 0.8916 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -0.979(TCAP) | 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.