Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23097 | 69514;69515;69516 | chr2:178577046;178577045;178577044 | chr2:179441773;179441772;179441771 |
| N2AB | 21456 | 64591;64592;64593 | chr2:178577046;178577045;178577044 | chr2:179441773;179441772;179441771 |
| N2A | 20529 | 61810;61811;61812 | chr2:178577046;178577045;178577044 | chr2:179441773;179441772;179441771 |
| N2B | 14032 | 42319;42320;42321 | chr2:178577046;178577045;178577044 | chr2:179441773;179441772;179441771 |
| Novex-1 | 14157 | 42694;42695;42696 | chr2:178577046;178577045;178577044 | chr2:179441773;179441772;179441771 |
| Novex-2 | 14224 | 42895;42896;42897 | chr2:178577046;178577045;178577044 | chr2:179441773;179441772;179441771 |
| 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/G | rs1165725715  |
-2.221 | 1.0 | N | 0.766 | 0.546 | 0.80155032981 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| C/G | rs1165725715 |
-2.221 | 1.0 | N | 0.766 | 0.546 | 0.80155032981 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/G | rs1165725715 |
-2.221 | 1.0 | N | 0.766 | 0.546 | 0.80155032981 | gnomAD-4.0.0 | 3.7189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0865E-06 | 0 | 0 |
| C/R | rs1165725715 |
None | 1.0 | N | 0.798 | 0.53 | 0.778074337641 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| C/R | rs1165725715 |
None | 1.0 | N | 0.798 | 0.53 | 0.778074337641 | gnomAD-4.0.0 | 1.61152E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20415E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4921 | ambiguous | 0.4701 | ambiguous | -1.661 | Destabilizing | 0.998 | D | 0.497 | neutral | None | None | None | None | N |
| C/D | 0.8159 | likely_pathogenic | 0.793 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| C/E | 0.832 | likely_pathogenic | 0.8027 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/F | 0.3831 | ambiguous | 0.368 | ambiguous | -1.044 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.47988748 | None | None | N |
| C/G | 0.214 | likely_benign | 0.1874 | benign | -1.989 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.479127011 | None | None | N |
| C/H | 0.6043 | likely_pathogenic | 0.5574 | ambiguous | -1.852 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| C/I | 0.6632 | likely_pathogenic | 0.6659 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| C/K | 0.7729 | likely_pathogenic | 0.731 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| C/L | 0.3533 | ambiguous | 0.3626 | ambiguous | -0.8 | Destabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| C/M | 0.6208 | likely_pathogenic | 0.6299 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| C/N | 0.4534 | ambiguous | 0.4154 | ambiguous | -0.976 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| C/P | 0.6941 | likely_pathogenic | 0.6052 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| C/Q | 0.5791 | likely_pathogenic | 0.5381 | ambiguous | -0.711 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| C/R | 0.4211 | ambiguous | 0.3619 | ambiguous | -0.719 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.497583455 | None | None | N |
| C/S | 0.3453 | ambiguous | 0.3259 | benign | -1.49 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.503527992 | None | None | N |
| C/T | 0.354 | ambiguous | 0.3585 | ambiguous | -1.137 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| C/V | 0.5174 | ambiguous | 0.5249 | ambiguous | -1.062 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| C/W | 0.7357 | likely_pathogenic | 0.7034 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.506892505 | None | None | N |
| C/Y | 0.509 | ambiguous | 0.4713 | ambiguous | -1.038 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.475657518 | 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.