Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24064 | 72415;72416;72417 | chr2:178573942;178573941;178573940 | chr2:179438669;179438668;179438667 |
| N2AB | 22423 | 67492;67493;67494 | chr2:178573942;178573941;178573940 | chr2:179438669;179438668;179438667 |
| N2A | 21496 | 64711;64712;64713 | chr2:178573942;178573941;178573940 | chr2:179438669;179438668;179438667 |
| N2B | 14999 | 45220;45221;45222 | chr2:178573942;178573941;178573940 | chr2:179438669;179438668;179438667 |
| Novex-1 | 15124 | 45595;45596;45597 | chr2:178573942;178573941;178573940 | chr2:179438669;179438668;179438667 |
| Novex-2 | 15191 | 45796;45797;45798 | chr2:178573942;178573941;178573940 | chr2:179438669;179438668;179438667 |
| 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/C | rs1222159679  |
-0.736 | 0.032 | N | 0.551 | 0.138 | 0.247872288689 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1222159679 |
-0.736 | 0.032 | N | 0.551 | 0.138 | 0.247872288689 | gnomAD-4.0.0 | 1.23191E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52883E-05 | None | 0 | 0 | 1.43938E-05 | 0 | 1.65695E-05 |
| S/G | None | None | None | N | 0.242 | 0.155 | 0.17948927462 | gnomAD-4.0.0 | 6.84394E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99614E-07 | 0 | 0 |
| S/N | None | None | 0.001 | N | 0.426 | 0.164 | 0.178374595973 | gnomAD-4.0.0 | 1.59235E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85987E-06 | 0 | 0 |
| S/R | None | None | 0.001 | N | 0.422 | 0.072 | 0.21279746466 | gnomAD-4.0.0 | 1.59235E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 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 | 0.0782 | likely_benign | 0.0919 | benign | -1.059 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | N |
| S/C | 0.0941 | likely_benign | 0.0962 | benign | -0.784 | Destabilizing | 0.032 | N | 0.551 | neutral | N | 0.488849204 | None | None | N |
| S/D | 0.3312 | likely_benign | 0.4215 | ambiguous | -0.663 | Destabilizing | 0.002 | N | 0.352 | neutral | None | None | None | None | N |
| S/E | 0.2982 | likely_benign | 0.3733 | ambiguous | -0.571 | Destabilizing | 0.002 | N | 0.281 | neutral | None | None | None | None | N |
| S/F | 0.1233 | likely_benign | 0.1439 | benign | -1.227 | Destabilizing | 0.001 | N | 0.483 | neutral | None | None | None | None | N |
| S/G | 0.1067 | likely_benign | 0.1151 | benign | -1.369 | Destabilizing | None | N | 0.242 | neutral | N | 0.477239409 | None | None | N |
| S/H | 0.1814 | likely_benign | 0.2138 | benign | -1.762 | Destabilizing | 0.009 | N | 0.529 | neutral | None | None | None | None | N |
| S/I | 0.1304 | likely_benign | 0.1554 | benign | -0.306 | Destabilizing | 0.001 | N | 0.37 | neutral | N | 0.477429108 | None | None | N |
| S/K | 0.2788 | likely_benign | 0.3787 | ambiguous | -0.412 | Destabilizing | 0.002 | N | 0.284 | neutral | None | None | None | None | N |
| S/L | 0.0669 | likely_benign | 0.0765 | benign | -0.306 | Destabilizing | None | N | 0.322 | neutral | None | None | None | None | N |
| S/M | 0.0924 | likely_benign | 0.1174 | benign | -0.094 | Destabilizing | 0.041 | N | 0.55 | neutral | None | None | None | None | N |
| S/N | 0.1033 | likely_benign | 0.1206 | benign | -0.738 | Destabilizing | 0.001 | N | 0.426 | neutral | N | 0.454526799 | None | None | N |
| S/P | 0.9154 | likely_pathogenic | 0.9541 | pathogenic | -0.524 | Destabilizing | 0.002 | N | 0.419 | neutral | None | None | None | None | N |
| S/Q | 0.2409 | likely_benign | 0.3067 | benign | -0.757 | Destabilizing | 0.008 | N | 0.404 | neutral | None | None | None | None | N |
| S/R | 0.2377 | likely_benign | 0.3218 | benign | -0.521 | Destabilizing | 0.001 | N | 0.422 | neutral | N | 0.470772495 | None | None | N |
| S/T | 0.0559 | likely_benign | 0.0689 | benign | -0.677 | Destabilizing | None | N | 0.172 | neutral | N | 0.418188803 | None | None | N |
| S/V | 0.1331 | likely_benign | 0.1666 | benign | -0.524 | Destabilizing | None | N | 0.322 | neutral | None | None | None | None | N |
| S/W | 0.2197 | likely_benign | 0.2551 | benign | -1.218 | Destabilizing | 0.041 | N | 0.631 | neutral | None | None | None | None | N |
| S/Y | 0.1314 | likely_benign | 0.1463 | benign | -0.885 | Destabilizing | None | N | 0.263 | 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.