Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27200 | 81823;81824;81825 | chr2:178564534;178564533;178564532 | chr2:179429261;179429260;179429259 |
| N2AB | 25559 | 76900;76901;76902 | chr2:178564534;178564533;178564532 | chr2:179429261;179429260;179429259 |
| N2A | 24632 | 74119;74120;74121 | chr2:178564534;178564533;178564532 | chr2:179429261;179429260;179429259 |
| N2B | 18135 | 54628;54629;54630 | chr2:178564534;178564533;178564532 | chr2:179429261;179429260;179429259 |
| Novex-1 | 18260 | 55003;55004;55005 | chr2:178564534;178564533;178564532 | chr2:179429261;179429260;179429259 |
| Novex-2 | 18327 | 55204;55205;55206 | chr2:178564534;178564533;178564532 | chr2:179429261;179429260;179429259 |
| 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/N | rs551750079  |
-0.228 | 0.999 | N | 0.753 | 0.373 | 0.343560092441 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs551750079 |
-0.228 | 0.999 | N | 0.753 | 0.373 | 0.343560092441 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs551750079 |
-0.228 | 0.999 | N | 0.753 | 0.373 | 0.343560092441 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | rs551750079 |
-0.228 | 0.999 | N | 0.753 | 0.373 | 0.343560092441 | gnomAD-4.0.0 | 1.85979E-06 | None | None | None | None | I | None | 1.33348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47802E-07 | 1.09861E-05 | 0 |
| S/R | rs773107849 |
None | 1.0 | N | 0.78 | 0.476 | 0.403328974453 | gnomAD-4.0.0 | 6.84547E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9969E-07 | 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 | 0.1323 | likely_benign | 0.1293 | benign | -0.486 | Destabilizing | 0.998 | D | 0.603 | neutral | None | None | None | None | I |
| S/C | 0.1129 | likely_benign | 0.1216 | benign | -0.211 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.489325363 | None | None | I |
| S/D | 0.9504 | likely_pathogenic | 0.9513 | pathogenic | -0.517 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | I |
| S/E | 0.9419 | likely_pathogenic | 0.9447 | pathogenic | -0.602 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | I |
| S/F | 0.3794 | ambiguous | 0.3721 | ambiguous | -1.072 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| S/G | 0.3293 | likely_benign | 0.3538 | ambiguous | -0.617 | Destabilizing | 0.999 | D | 0.593 | neutral | N | 0.479705988 | None | None | I |
| S/H | 0.705 | likely_pathogenic | 0.718 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| S/I | 0.5758 | likely_pathogenic | 0.6188 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.49299544 | None | None | I |
| S/K | 0.9811 | likely_pathogenic | 0.9814 | pathogenic | -0.605 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | I |
| S/L | 0.2312 | likely_benign | 0.2277 | benign | -0.259 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| S/M | 0.3845 | ambiguous | 0.3999 | ambiguous | 0.287 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| S/N | 0.6093 | likely_pathogenic | 0.6199 | pathogenic | -0.392 | Destabilizing | 0.999 | D | 0.753 | deleterious | N | 0.502047567 | None | None | I |
| S/P | 0.9861 | likely_pathogenic | 0.9866 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| S/Q | 0.8547 | likely_pathogenic | 0.8642 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| S/R | 0.9627 | likely_pathogenic | 0.9618 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.502323829 | None | None | I |
| S/T | 0.3257 | likely_benign | 0.3156 | benign | -0.437 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.489779436 | None | None | I |
| S/V | 0.4876 | ambiguous | 0.5061 | ambiguous | -0.306 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| S/W | 0.5956 | likely_pathogenic | 0.5922 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| S/Y | 0.4082 | ambiguous | 0.4095 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
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.