Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9195 | 27808;27809;27810 | chr2:178712339;178712338;178712337 | chr2:179577066;179577065;179577064 |
| N2AB | 8878 | 26857;26858;26859 | chr2:178712339;178712338;178712337 | chr2:179577066;179577065;179577064 |
| N2A | 7951 | 24076;24077;24078 | chr2:178712339;178712338;178712337 | chr2:179577066;179577065;179577064 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 0.012 | N | 0.55 | 0.352 | 0.51469891142 | gnomAD-4.0.0 | 6.84269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 0 |
| C/R | rs762899501  |
-0.499 | 0.934 | N | 0.727 | 0.516 | 0.629698297941 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.1198E-04 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs762899501 |
-0.499 | 0.934 | N | 0.727 | 0.516 | 0.629698297941 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs762899501 |
-0.499 | 0.934 | N | 0.727 | 0.516 | 0.629698297941 | gnomAD-4.0.0 | 4.33802E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.3366E-04 | None | 0 | 0 | 8.47653E-07 | 0 | 0 |
| C/S | rs750638085 |
-1.174 | 0.051 | N | 0.378 | 0.283 | 0.614082520381 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs750638085 |
-1.174 | 0.051 | N | 0.378 | 0.283 | 0.614082520381 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs750638085 |
-1.174 | 0.051 | N | 0.378 | 0.283 | 0.614082520381 | gnomAD-4.0.0 | 9.29655E-06 | None | None | None | None | N | None | 1.06815E-04 | 0 | None | 0 | 0 | None | 0 | 1.64474E-04 | 8.47679E-07 | 1.09818E-05 | 6.40533E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4479 | ambiguous | 0.4252 | ambiguous | -1.998 | Destabilizing | 0.525 | D | 0.472 | neutral | None | None | None | None | N |
| C/D | 0.8646 | likely_pathogenic | 0.8322 | pathogenic | -0.564 | Destabilizing | 0.949 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/E | 0.9599 | likely_pathogenic | 0.9397 | pathogenic | -0.4 | Destabilizing | 0.949 | D | 0.723 | prob.delet. | None | None | None | None | N |
| C/F | 0.4397 | ambiguous | 0.3629 | ambiguous | -1.295 | Destabilizing | 0.012 | N | 0.55 | neutral | N | 0.508013774 | None | None | N |
| C/G | 0.2484 | likely_benign | 0.221 | benign | -2.341 | Highly Destabilizing | 0.669 | D | 0.688 | prob.neutral | N | 0.501430408 | None | None | N |
| C/H | 0.8726 | likely_pathogenic | 0.8 | pathogenic | -2.284 | Highly Destabilizing | 0.998 | D | 0.7 | prob.neutral | None | None | None | None | N |
| C/I | 0.6666 | likely_pathogenic | 0.6255 | pathogenic | -1.086 | Destabilizing | 0.842 | D | 0.638 | neutral | None | None | None | None | N |
| C/K | 0.9841 | likely_pathogenic | 0.9685 | pathogenic | -0.938 | Destabilizing | 0.949 | D | 0.723 | prob.delet. | None | None | None | None | N |
| C/L | 0.6573 | likely_pathogenic | 0.6198 | pathogenic | -1.086 | Destabilizing | 0.525 | D | 0.556 | neutral | None | None | None | None | N |
| C/M | 0.7746 | likely_pathogenic | 0.7586 | pathogenic | -0.044 | Destabilizing | 0.991 | D | 0.64 | neutral | None | None | None | None | N |
| C/N | 0.7171 | likely_pathogenic | 0.6715 | pathogenic | -1.152 | Destabilizing | 0.949 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/P | 0.9943 | likely_pathogenic | 0.99 | pathogenic | -1.367 | Destabilizing | 0.974 | D | 0.726 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9093 | likely_pathogenic | 0.8668 | pathogenic | -0.912 | Destabilizing | 0.974 | D | 0.735 | prob.delet. | None | None | None | None | N |
| C/R | 0.9016 | likely_pathogenic | 0.8284 | pathogenic | -1.033 | Destabilizing | 0.934 | D | 0.727 | prob.delet. | N | 0.486680288 | None | None | N |
| C/S | 0.2361 | likely_benign | 0.2248 | benign | -1.699 | Destabilizing | 0.051 | N | 0.378 | neutral | N | 0.457212204 | None | None | N |
| C/T | 0.4141 | ambiguous | 0.4258 | ambiguous | -1.337 | Destabilizing | 0.067 | N | 0.336 | neutral | None | None | None | None | N |
| C/V | 0.5725 | likely_pathogenic | 0.5383 | ambiguous | -1.367 | Destabilizing | 0.842 | D | 0.597 | neutral | None | None | None | None | N |
| C/W | 0.8577 | likely_pathogenic | 0.7833 | pathogenic | -1.346 | Destabilizing | 0.997 | D | 0.656 | neutral | N | 0.505153391 | None | None | N |
| C/Y | 0.7007 | likely_pathogenic | 0.5808 | pathogenic | -1.309 | Destabilizing | 0.876 | D | 0.687 | prob.neutral | N | 0.508267263 | 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.