Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3555 | 10888;10889;10890 | chr2:178757557;178757556;178757555 | chr2:179622284;179622283;179622282 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3509 | 10750;10751;10752 | chr2:178757557;178757556;178757555 | chr2:179622284;179622283;179622282 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | None | None | None | 0.269 | None | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0868 | likely_benign | None | None | -0.706 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/C | 0.5487 | ambiguous | None | None | -0.474 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.4389 | ambiguous | None | None | 0.2 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.2948 | likely_benign | None | None | 0.163 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.2671 | likely_benign | None | None | -0.948 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3909 | ambiguous | None | None | -0.904 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.2663 | likely_benign | None | None | -1.182 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1584 | likely_benign | None | None | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/K | 0.2478 | likely_benign | None | None | -0.552 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1129 | likely_benign | None | None | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.094 | likely_benign | None | None | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1579 | likely_benign | None | None | -0.386 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.586 | likely_pathogenic | None | None | -0.395 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Q | 0.2278 | likely_benign | None | None | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.1938 | likely_benign | None | None | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1341 | likely_benign | None | None | -0.696 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/V | 0.1431 | likely_benign | None | None | -0.395 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.6395 | likely_pathogenic | None | None | -0.859 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.3328 | likely_benign | None | None | -0.623 | 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.