Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9276 | 28051;28052;28053 | chr2:178712004;178712003;178712002 | chr2:179576731;179576730;179576729 |
| N2AB | 8959 | 27100;27101;27102 | chr2:178712004;178712003;178712002 | chr2:179576731;179576730;179576729 |
| N2A | 8032 | 24319;24320;24321 | chr2:178712004;178712003;178712002 | chr2:179576731;179576730;179576729 |
| 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/L | rs1289827097  |
-0.566 | 0.316 | N | 0.413 | 0.058 | 0.385906861911 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs1289827097 |
-0.566 | 0.316 | N | 0.413 | 0.058 | 0.385906861911 | gnomAD-4.0.0 | 6.56935E-06 | None | None | None | None | N | None | 2.41196E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | None | None | 0.028 | N | 0.355 | 0.187 | 0.335910606209 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs1289827097 |
None | 0.028 | N | 0.229 | 0.054 | 0.441740949975 | gnomAD-4.0.0 | 1.36871E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99617E-07 | 1.16087E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2123 | likely_benign | 0.2449 | benign | -2.162 | Highly Destabilizing | 0.38 | N | 0.463 | neutral | None | None | None | None | N |
| I/C | 0.511 | ambiguous | 0.532 | ambiguous | -1.579 | Destabilizing | 0.993 | D | 0.573 | neutral | None | None | None | None | N |
| I/D | 0.5446 | ambiguous | 0.6131 | pathogenic | -1.805 | Destabilizing | 0.872 | D | 0.615 | neutral | None | None | None | None | N |
| I/E | 0.4088 | ambiguous | 0.4346 | ambiguous | -1.597 | Destabilizing | 0.872 | D | 0.581 | neutral | None | None | None | None | N |
| I/F | 0.1116 | likely_benign | 0.1345 | benign | -1.236 | Destabilizing | 0.973 | D | 0.571 | neutral | N | 0.470215134 | None | None | N |
| I/G | 0.459 | ambiguous | 0.5212 | ambiguous | -2.679 | Highly Destabilizing | 0.872 | D | 0.593 | neutral | None | None | None | None | N |
| I/H | 0.2468 | likely_benign | 0.2664 | benign | -2.072 | Highly Destabilizing | 0.998 | D | 0.672 | neutral | None | None | None | None | N |
| I/K | 0.1964 | likely_benign | 0.2105 | benign | -1.308 | Destabilizing | 0.872 | D | 0.584 | neutral | None | None | None | None | N |
| I/L | 0.1057 | likely_benign | 0.1115 | benign | -0.689 | Destabilizing | 0.316 | N | 0.413 | neutral | N | 0.462518371 | None | None | N |
| I/M | 0.1005 | likely_benign | 0.1101 | benign | -0.819 | Destabilizing | 0.973 | D | 0.574 | neutral | N | 0.464289239 | None | None | N |
| I/N | 0.158 | likely_benign | 0.1771 | benign | -1.542 | Destabilizing | 0.837 | D | 0.641 | neutral | N | 0.490763765 | None | None | N |
| I/P | 0.9413 | likely_pathogenic | 0.9709 | pathogenic | -1.159 | Destabilizing | 0.98 | D | 0.64 | neutral | None | None | None | None | N |
| I/Q | 0.2522 | likely_benign | 0.262 | benign | -1.413 | Destabilizing | 0.98 | D | 0.647 | neutral | None | None | None | None | N |
| I/R | 0.1316 | likely_benign | 0.1485 | benign | -1.155 | Destabilizing | 0.98 | D | 0.638 | neutral | None | None | None | None | N |
| I/S | 0.1347 | likely_benign | 0.1471 | benign | -2.347 | Highly Destabilizing | 0.166 | N | 0.489 | neutral | N | 0.391252918 | None | None | N |
| I/T | 0.0969 | likely_benign | 0.099 | benign | -1.99 | Destabilizing | 0.028 | N | 0.355 | neutral | N | 0.354462612 | None | None | N |
| I/V | 0.0687 | likely_benign | 0.0747 | benign | -1.159 | Destabilizing | 0.028 | N | 0.229 | neutral | N | 0.434331692 | None | None | N |
| I/W | 0.6457 | likely_pathogenic | 0.7166 | pathogenic | -1.496 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | None | None | None | None | N |
| I/Y | 0.3465 | ambiguous | 0.3732 | ambiguous | -1.205 | Destabilizing | 0.993 | D | 0.567 | neutral | 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.