Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8296 | 25111;25112;25113 | chr2:178718120;178718119;178718118 | chr2:179582847;179582846;179582845 |
| N2AB | 7979 | 24160;24161;24162 | chr2:178718120;178718119;178718118 | chr2:179582847;179582846;179582845 |
| N2A | 7052 | 21379;21380;21381 | chr2:178718120;178718119;178718118 | chr2:179582847;179582846;179582845 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | None | None | 0.117 | D | 0.588 | 0.527 | 0.305086939656 | gnomAD-4.0.0 | 6.85202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99535E-07 | 0 | 0 |
| S/T | rs767731986  |
-0.34 | 0.001 | N | 0.248 | 0.091 | 0.149567049428 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs767731986 |
-0.34 | 0.001 | N | 0.248 | 0.091 | 0.149567049428 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs767731986 |
-0.34 | 0.001 | N | 0.248 | 0.091 | 0.149567049428 | gnomAD-4.0.0 | 2.48203E-06 | None | None | None | None | N | None | 0 | 6.66756E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1166 | likely_benign | 0.1441 | benign | -0.618 | Destabilizing | None | N | 0.258 | neutral | N | 0.488204906 | None | None | N |
| S/C | 0.2412 | likely_benign | 0.3065 | benign | -0.282 | Destabilizing | 0.78 | D | 0.566 | neutral | D | 0.536329607 | None | None | N |
| S/D | 0.7136 | likely_pathogenic | 0.8536 | pathogenic | -0.96 | Destabilizing | 0.149 | N | 0.531 | neutral | None | None | None | None | N |
| S/E | 0.7578 | likely_pathogenic | 0.878 | pathogenic | -0.832 | Destabilizing | 0.149 | N | 0.515 | neutral | None | None | None | None | N |
| S/F | 0.2764 | likely_benign | 0.3875 | ambiguous | -0.391 | Destabilizing | 0.188 | N | 0.578 | neutral | N | 0.503982211 | None | None | N |
| S/G | 0.2216 | likely_benign | 0.2828 | benign | -0.992 | Destabilizing | 0.035 | N | 0.491 | neutral | None | None | None | None | N |
| S/H | 0.5108 | ambiguous | 0.6154 | pathogenic | -1.453 | Destabilizing | 0.38 | N | 0.573 | neutral | None | None | None | None | N |
| S/I | 0.2653 | likely_benign | 0.3734 | ambiguous | 0.312 | Stabilizing | 0.149 | N | 0.587 | neutral | None | None | None | None | N |
| S/K | 0.9062 | likely_pathogenic | 0.9624 | pathogenic | -0.608 | Destabilizing | 0.002 | N | 0.284 | neutral | None | None | None | None | N |
| S/L | 0.1622 | likely_benign | 0.2158 | benign | 0.312 | Stabilizing | 0.035 | N | 0.528 | neutral | None | None | None | None | N |
| S/M | 0.3401 | ambiguous | 0.3851 | ambiguous | 0.401 | Stabilizing | 0.555 | D | 0.574 | neutral | None | None | None | None | N |
| S/N | 0.2979 | likely_benign | 0.3553 | ambiguous | -0.967 | Destabilizing | 0.262 | N | 0.545 | neutral | None | None | None | None | N |
| S/P | 0.9608 | likely_pathogenic | 0.9889 | pathogenic | 0.038 | Stabilizing | 0.117 | N | 0.588 | neutral | D | 0.547178933 | None | None | N |
| S/Q | 0.6846 | likely_pathogenic | 0.7721 | pathogenic | -0.793 | Destabilizing | 0.38 | N | 0.579 | neutral | None | None | None | None | N |
| S/R | 0.8118 | likely_pathogenic | 0.9228 | pathogenic | -0.856 | Destabilizing | 0.081 | N | 0.562 | neutral | None | None | None | None | N |
| S/T | 0.1114 | likely_benign | 0.1228 | benign | -0.719 | Destabilizing | 0.001 | N | 0.248 | neutral | N | 0.452849322 | None | None | N |
| S/V | 0.2727 | likely_benign | 0.3535 | ambiguous | 0.038 | Stabilizing | 0.081 | N | 0.539 | neutral | None | None | None | None | N |
| S/W | 0.4366 | ambiguous | 0.6001 | pathogenic | -0.648 | Destabilizing | 0.824 | D | 0.62 | neutral | None | None | None | None | N |
| S/Y | 0.2823 | likely_benign | 0.3938 | ambiguous | -0.27 | Destabilizing | 0.002 | N | 0.53 | neutral | N | 0.499044687 | 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.