Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26171 | 78736;78737;78738 | chr2:178567621;178567620;178567619 | chr2:179432348;179432347;179432346 |
| N2AB | 24530 | 73813;73814;73815 | chr2:178567621;178567620;178567619 | chr2:179432348;179432347;179432346 |
| N2A | 23603 | 71032;71033;71034 | chr2:178567621;178567620;178567619 | chr2:179432348;179432347;179432346 |
| N2B | 17106 | 51541;51542;51543 | chr2:178567621;178567620;178567619 | chr2:179432348;179432347;179432346 |
| Novex-1 | 17231 | 51916;51917;51918 | chr2:178567621;178567620;178567619 | chr2:179432348;179432347;179432346 |
| Novex-2 | 17298 | 52117;52118;52119 | chr2:178567621;178567620;178567619 | chr2:179432348;179432347;179432346 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.117 | N | 0.349 | 0.11 | 0.287603790349 | gnomAD-4.0.0 | 1.59587E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41663E-04 | 0 | 0 | 0 |
| A/T | rs1706388578  |
None | None | N | 0.117 | 0.089 | 0.0806252709748 | 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 |
| A/T | rs1706388578 |
None | None | N | 0.117 | 0.089 | 0.0806252709748 | gnomAD-4.0.0 | 1.86122E-06 | None | None | None | None | I | None | 1.33561E-05 | 1.67017E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60339E-05 |
| A/V | rs1706387340 |
None | None | N | 0.119 | 0.09 | 0.243972157842 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1706387340 |
None | None | N | 0.119 | 0.09 | 0.243972157842 | gnomAD-4.0.0 | 6.57774E-06 | None | None | None | None | I | None | 2.41499E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3644 | ambiguous | 0.346 | ambiguous | -0.862 | Destabilizing | 0.824 | D | 0.381 | neutral | None | None | None | None | I |
| A/D | 0.5311 | ambiguous | 0.466 | ambiguous | -0.935 | Destabilizing | 0.081 | N | 0.41 | neutral | None | None | None | None | I |
| A/E | 0.4459 | ambiguous | 0.4075 | ambiguous | -1.077 | Destabilizing | None | N | 0.233 | neutral | N | 0.462343091 | None | None | I |
| A/F | 0.3381 | likely_benign | 0.2899 | benign | -1.247 | Destabilizing | 0.38 | N | 0.455 | neutral | None | None | None | None | I |
| A/G | 0.2029 | likely_benign | 0.1843 | benign | -0.688 | Destabilizing | 0.117 | N | 0.349 | neutral | N | 0.478634756 | None | None | I |
| A/H | 0.5402 | ambiguous | 0.5106 | ambiguous | -0.702 | Destabilizing | 0.824 | D | 0.441 | neutral | None | None | None | None | I |
| A/I | 0.206 | likely_benign | 0.1807 | benign | -0.565 | Destabilizing | 0.029 | N | 0.35 | neutral | None | None | None | None | I |
| A/K | 0.697 | likely_pathogenic | 0.6362 | pathogenic | -0.749 | Destabilizing | 0.081 | N | 0.344 | neutral | None | None | None | None | I |
| A/L | 0.1864 | likely_benign | 0.1623 | benign | -0.565 | Destabilizing | 0.035 | N | 0.384 | neutral | None | None | None | None | I |
| A/M | 0.1965 | likely_benign | 0.1733 | benign | -0.362 | Destabilizing | 0.38 | N | 0.363 | neutral | None | None | None | None | I |
| A/N | 0.241 | likely_benign | 0.2176 | benign | -0.456 | Destabilizing | 0.38 | N | 0.439 | neutral | None | None | None | None | I |
| A/P | 0.876 | likely_pathogenic | 0.8372 | pathogenic | -0.544 | Destabilizing | 0.484 | N | 0.378 | neutral | N | 0.492322069 | None | None | I |
| A/Q | 0.429 | ambiguous | 0.4088 | ambiguous | -0.809 | Destabilizing | 0.235 | N | 0.371 | neutral | None | None | None | None | I |
| A/R | 0.6244 | likely_pathogenic | 0.5655 | pathogenic | -0.248 | Destabilizing | 0.38 | N | 0.375 | neutral | None | None | None | None | I |
| A/S | 0.0931 | likely_benign | 0.091 | benign | -0.679 | Destabilizing | 0.005 | N | 0.26 | neutral | N | 0.453494322 | None | None | I |
| A/T | 0.0767 | likely_benign | 0.0704 | benign | -0.75 | Destabilizing | None | N | 0.117 | neutral | N | 0.476813898 | None | None | I |
| A/V | 0.1204 | likely_benign | 0.109 | benign | -0.544 | Destabilizing | None | N | 0.119 | neutral | N | 0.442568039 | None | None | I |
| A/W | 0.7948 | likely_pathogenic | 0.7631 | pathogenic | -1.358 | Destabilizing | 0.935 | D | 0.593 | neutral | None | None | None | None | I |
| A/Y | 0.4975 | ambiguous | 0.4532 | ambiguous | -0.999 | Destabilizing | 0.555 | D | 0.452 | 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.