Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23090 | 69493;69494;69495 | chr2:178577067;178577066;178577065 | chr2:179441794;179441793;179441792 |
| N2AB | 21449 | 64570;64571;64572 | chr2:178577067;178577066;178577065 | chr2:179441794;179441793;179441792 |
| N2A | 20522 | 61789;61790;61791 | chr2:178577067;178577066;178577065 | chr2:179441794;179441793;179441792 |
| N2B | 14025 | 42298;42299;42300 | chr2:178577067;178577066;178577065 | chr2:179441794;179441793;179441792 |
| Novex-1 | 14150 | 42673;42674;42675 | chr2:178577067;178577066;178577065 | chr2:179441794;179441793;179441792 |
| Novex-2 | 14217 | 42874;42875;42876 | chr2:178577067;178577066;178577065 | chr2:179441794;179441793;179441792 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs377487375  |
-1.301 | 0.004 | N | 0.305 | 0.236 | 0.576013683475 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs377487375 |
-1.301 | 0.004 | N | 0.305 | 0.236 | 0.576013683475 | gnomAD-4.0.0 | 3.42171E-06 | None | None | None | None | I | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 3.47222E-04 | 0 | 0 | 3.314E-05 |
| V/I | None | None | 0.004 | N | 0.179 | 0.114 | 0.340032825777 | gnomAD-4.0.0 | 1.36869E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79925E-06 | 0 | 0 |
| V/L | rs377487375 |
None | 0.002 | N | 0.123 | 0.084 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs377487375 |
None | 0.002 | N | 0.123 | 0.084 | None | gnomAD-4.0.0 | 6.58025E-06 | None | None | None | None | I | None | 2.41558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4667 | ambiguous | 0.4168 | ambiguous | -1.567 | Destabilizing | 0.201 | N | 0.467 | neutral | N | 0.478370224 | None | None | I |
| V/C | 0.8445 | likely_pathogenic | 0.8201 | pathogenic | -1.114 | Destabilizing | 0.992 | D | 0.532 | neutral | None | None | None | None | I |
| V/D | 0.9574 | likely_pathogenic | 0.9415 | pathogenic | -1.38 | Destabilizing | 0.81 | D | 0.602 | neutral | D | 0.530316359 | None | None | I |
| V/E | 0.8968 | likely_pathogenic | 0.869 | pathogenic | -1.32 | Destabilizing | 0.85 | D | 0.58 | neutral | None | None | None | None | I |
| V/F | 0.3991 | ambiguous | 0.3465 | ambiguous | -1.095 | Destabilizing | 0.004 | N | 0.305 | neutral | N | 0.502435506 | None | None | I |
| V/G | 0.7491 | likely_pathogenic | 0.7081 | pathogenic | -1.947 | Destabilizing | 0.549 | D | 0.587 | neutral | N | 0.514440603 | None | None | I |
| V/H | 0.9451 | likely_pathogenic | 0.9269 | pathogenic | -1.424 | Destabilizing | 0.992 | D | 0.598 | neutral | None | None | None | None | I |
| V/I | 0.0667 | likely_benign | 0.0696 | benign | -0.6 | Destabilizing | 0.004 | N | 0.179 | neutral | N | 0.468633306 | None | None | I |
| V/K | 0.9486 | likely_pathogenic | 0.9338 | pathogenic | -1.37 | Destabilizing | 0.85 | D | 0.575 | neutral | None | None | None | None | I |
| V/L | 0.1692 | likely_benign | 0.1761 | benign | -0.6 | Destabilizing | 0.002 | N | 0.123 | neutral | N | 0.501933269 | None | None | I |
| V/M | 0.2194 | likely_benign | 0.2006 | benign | -0.488 | Destabilizing | 0.85 | D | 0.526 | neutral | None | None | None | None | I |
| V/N | 0.8724 | likely_pathogenic | 0.831 | pathogenic | -1.327 | Destabilizing | 0.85 | D | 0.603 | neutral | None | None | None | None | I |
| V/P | 0.9642 | likely_pathogenic | 0.9645 | pathogenic | -0.888 | Destabilizing | 0.92 | D | 0.588 | neutral | None | None | None | None | I |
| V/Q | 0.8732 | likely_pathogenic | 0.8386 | pathogenic | -1.39 | Destabilizing | 0.92 | D | 0.601 | neutral | None | None | None | None | I |
| V/R | 0.9318 | likely_pathogenic | 0.9139 | pathogenic | -0.917 | Destabilizing | 0.85 | D | 0.605 | neutral | None | None | None | None | I |
| V/S | 0.7149 | likely_pathogenic | 0.6523 | pathogenic | -1.9 | Destabilizing | 0.447 | N | 0.548 | neutral | None | None | None | None | I |
| V/T | 0.5645 | likely_pathogenic | 0.5058 | ambiguous | -1.712 | Destabilizing | 0.005 | N | 0.316 | neutral | None | None | None | None | I |
| V/W | 0.9647 | likely_pathogenic | 0.9563 | pathogenic | -1.354 | Destabilizing | 0.992 | D | 0.615 | neutral | None | None | None | None | I |
| V/Y | 0.8813 | likely_pathogenic | 0.8472 | pathogenic | -1.024 | Destabilizing | 0.739 | D | 0.552 | neutral | 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.