Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9438 | 28537;28538;28539 | chr2:178710785;178710784;178710783 | chr2:179575512;179575511;179575510 |
| N2AB | 9121 | 27586;27587;27588 | chr2:178710785;178710784;178710783 | chr2:179575512;179575511;179575510 |
| N2A | 8194 | 24805;24806;24807 | chr2:178710785;178710784;178710783 | chr2:179575512;179575511;179575510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs72648998  |
0.056 | 0.175 | None | 0.253 | 0.105 | None | gnomAD-2.1.1 | 4.68935E-02 | None | None | None | None | N | None | 1E-02 | 9.45915E-02 | None | 5.35059E-02 | 5.12E-05 | None | 3.55859E-02 | None | 1.95875E-02 | 5.53338E-02 | 4.67787E-02 |
| R/Q | rs72648998 |
0.056 | 0.175 | None | 0.253 | 0.105 | None | gnomAD-3.1.2 | 4.08323E-02 | None | None | None | None | N | None | 1.22858E-02 | 6.09037E-02 | 1.41447E-01 | 4.95392E-02 | 3.85802E-04 | None | 2.45283E-02 | 1.89873E-02 | 5.81922E-02 | 3.63071E-02 | 3.34928E-02 |
| R/Q | rs72648998 |
0.056 | 0.175 | None | 0.253 | 0.105 | None | 1000 genomes | 2.73562E-02 | None | None | None | None | N | None | 0 | 8.07E-02 | None | None | 0 | 5.47E-02 | None | None | None | 2.66E-02 | None |
| R/Q | rs72648998 |
0.056 | 0.175 | None | 0.253 | 0.105 | None | gnomAD-4.0.0 | 5.42117E-02 | None | None | None | None | N | None | 1.0836E-02 | 8.35278E-02 | None | 5.20165E-02 | 2.67439E-04 | None | 2.11243E-02 | 3.10333E-02 | 6.08438E-02 | 3.76515E-02 | 5.16916E-02 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5382 | ambiguous | 0.5055 | ambiguous | 0.022 | Stabilizing | 0.25 | N | 0.45 | neutral | None | None | None | None | N |
| R/C | 0.2807 | likely_benign | 0.2709 | benign | -0.317 | Destabilizing | 0.992 | D | 0.461 | neutral | None | None | None | None | N |
| R/D | 0.8074 | likely_pathogenic | 0.7935 | pathogenic | -0.34 | Destabilizing | 0.617 | D | 0.429 | neutral | None | None | None | None | N |
| R/E | 0.5828 | likely_pathogenic | 0.5324 | ambiguous | -0.301 | Destabilizing | 0.447 | N | 0.43 | neutral | None | None | None | None | N |
| R/F | 0.5631 | ambiguous | 0.5613 | ambiguous | -0.312 | Destabilizing | 0.972 | D | 0.433 | neutral | None | None | None | None | N |
| R/G | 0.3567 | ambiguous | 0.3412 | ambiguous | -0.111 | Destabilizing | 0.01 | N | 0.269 | neutral | None | None | None | None | N |
| R/H | 0.1251 | likely_benign | 0.1249 | benign | -0.599 | Destabilizing | 0.92 | D | 0.421 | neutral | None | None | None | None | N |
| R/I | 0.3595 | ambiguous | 0.3278 | benign | 0.326 | Stabilizing | 0.92 | D | 0.445 | neutral | None | None | None | None | N |
| R/K | 0.1485 | likely_benign | 0.1523 | benign | -0.229 | Destabilizing | 0.005 | N | 0.285 | neutral | None | None | None | None | N |
| R/L | 0.3107 | likely_benign | 0.2911 | benign | 0.326 | Stabilizing | 0.756 | D | 0.451 | neutral | None | None | None | None | N |
| R/M | 0.4395 | ambiguous | 0.447 | ambiguous | -0.12 | Destabilizing | 0.977 | D | 0.426 | neutral | None | None | None | None | N |
| R/N | 0.6878 | likely_pathogenic | 0.6869 | pathogenic | -0.18 | Destabilizing | 0.617 | D | 0.429 | neutral | None | None | None | None | N |
| R/P | 0.5477 | ambiguous | 0.5217 | ambiguous | 0.243 | Stabilizing | 0.957 | D | 0.453 | neutral | None | None | None | None | N |
| R/Q | 0.1409 | likely_benign | 0.1501 | benign | -0.199 | Destabilizing | 0.175 | N | 0.253 | neutral | None | None | None | None | N |
| R/S | 0.5797 | likely_pathogenic | 0.547 | ambiguous | -0.337 | Destabilizing | 0.447 | N | 0.466 | neutral | None | None | None | None | N |
| R/T | 0.364 | ambiguous | 0.3517 | ambiguous | -0.194 | Destabilizing | 0.617 | D | 0.445 | neutral | None | None | None | None | N |
| R/V | 0.4753 | ambiguous | 0.4324 | ambiguous | 0.243 | Stabilizing | 0.85 | D | 0.419 | neutral | None | None | None | None | N |
| R/W | 0.1785 | likely_benign | 0.1894 | benign | -0.51 | Destabilizing | 0.992 | D | 0.513 | neutral | None | None | None | None | N |
| R/Y | 0.459 | ambiguous | 0.4588 | ambiguous | -0.104 | Destabilizing | 0.92 | D | 0.445 | 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.