Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3473 | 10642;10643;10644 | chr2:178757803;178757802;178757801 | chr2:179622530;179622529;179622528 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3427 | 10504;10505;10506 | chr2:178757803;178757802;178757801 | chr2:179622530;179622529;179622528 |
| 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/I | rs1574398380  |
None | None | None | None | 0.305 | None | gnomAD-4.0.0 | 1.59454E-06 | None | None | None | None | N | None | 0 | 2.28854E-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 | 0.1532 | likely_benign | None | None | -0.296 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.3016 | likely_benign | None | None | -0.32 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.5052 | ambiguous | None | None | 0.329 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.77 | likely_pathogenic | None | None | 0.236 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.5464 | ambiguous | None | None | -0.994 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1958 | likely_benign | None | None | -0.377 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.6006 | likely_pathogenic | None | None | -0.804 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.5437 | ambiguous | None | None | -0.217 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.9202 | likely_pathogenic | None | None | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.3022 | likely_benign | None | None | -0.217 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.5559 | ambiguous | None | None | -0.128 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.2433 | likely_benign | None | None | -0.086 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.2272 | likely_benign | None | None | -0.216 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.7811 | likely_pathogenic | None | None | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.8729 | likely_pathogenic | None | None | -0.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.1714 | likely_benign | None | None | -0.188 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/V | 0.518 | ambiguous | None | None | -0.216 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.7493 | likely_pathogenic | None | None | -1.037 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.458 | ambiguous | None | None | -0.719 | Destabilizing | None | None | None | None | 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.