Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3206 | 9841;9842;9843 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
| N2AB | 3206 | 9841;9842;9843 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
| N2A | 3206 | 9841;9842;9843 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
| N2B | 3160 | 9703;9704;9705 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
| Novex-1 | 3160 | 9703;9704;9705 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
| Novex-2 | 3160 | 9703;9704;9705 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
| Novex-3 | 3206 | 9841;9842;9843 | chr2:178766468;178766467;178766466 | chr2:179631195;179631194;179631193 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1385591866  |
-1.311 | 0.028 | N | 0.422 | 0.311 | 0.309839678437 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs1385591866 |
-1.311 | 0.028 | N | 0.422 | 0.311 | 0.309839678437 | gnomAD-4.0.0 | 3.18109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.5432 | ambiguous | 0.819 | pathogenic | -2.929 | Highly Destabilizing | 0.016 | N | 0.404 | neutral | None | None | None | None | N |
| F/C | 0.4304 | ambiguous | 0.6216 | pathogenic | -1.517 | Destabilizing | 0.001 | N | 0.379 | neutral | N | 0.438053612 | None | None | N |
| F/D | 0.7967 | likely_pathogenic | 0.9337 | pathogenic | -2.643 | Highly Destabilizing | 0.148 | N | 0.463 | neutral | None | None | None | None | N |
| F/E | 0.7353 | likely_pathogenic | 0.8841 | pathogenic | -2.527 | Highly Destabilizing | 0.148 | N | 0.441 | neutral | None | None | None | None | N |
| F/G | 0.8544 | likely_pathogenic | 0.9585 | pathogenic | -3.292 | Highly Destabilizing | 0.08 | N | 0.385 | neutral | None | None | None | None | N |
| F/H | 0.5062 | ambiguous | 0.7059 | pathogenic | -1.55 | Destabilizing | 0.901 | D | 0.473 | neutral | None | None | None | None | N |
| F/I | 0.1866 | likely_benign | 0.3262 | benign | -1.778 | Destabilizing | 0.061 | N | 0.377 | neutral | N | 0.417612313 | None | None | N |
| F/K | 0.8731 | likely_pathogenic | 0.9663 | pathogenic | -1.856 | Destabilizing | 0.148 | N | 0.441 | neutral | None | None | None | None | N |
| F/L | 0.7523 | likely_pathogenic | 0.903 | pathogenic | -1.778 | Destabilizing | 0.028 | N | 0.422 | neutral | N | 0.421657177 | None | None | N |
| F/M | 0.4464 | ambiguous | 0.6288 | pathogenic | -1.294 | Destabilizing | 0.749 | D | 0.447 | neutral | None | None | None | None | N |
| F/N | 0.559 | ambiguous | 0.8077 | pathogenic | -1.997 | Destabilizing | 0.296 | N | 0.499 | neutral | None | None | None | None | N |
| F/P | 0.9981 | likely_pathogenic | 0.9996 | pathogenic | -2.165 | Highly Destabilizing | 0.46 | N | 0.519 | neutral | None | None | None | None | N |
| F/Q | 0.7211 | likely_pathogenic | 0.8817 | pathogenic | -2.136 | Highly Destabilizing | 0.46 | N | 0.543 | neutral | None | None | None | None | N |
| F/R | 0.7719 | likely_pathogenic | 0.9268 | pathogenic | -1.052 | Destabilizing | 0.296 | N | 0.539 | neutral | None | None | None | None | N |
| F/S | 0.3665 | ambiguous | 0.7038 | pathogenic | -2.681 | Highly Destabilizing | 0.001 | N | 0.345 | neutral | N | 0.426256085 | None | None | N |
| F/T | 0.3934 | ambiguous | 0.6673 | pathogenic | -2.478 | Highly Destabilizing | 0.001 | N | 0.339 | neutral | None | None | None | None | N |
| F/V | 0.195 | likely_benign | 0.3374 | benign | -2.165 | Highly Destabilizing | None | N | 0.259 | neutral | N | 0.370736083 | None | None | N |
| F/W | 0.5196 | ambiguous | 0.6517 | pathogenic | -0.752 | Destabilizing | 0.901 | D | 0.495 | neutral | None | None | None | None | N |
| F/Y | 0.1581 | likely_benign | 0.2007 | benign | -1.061 | Destabilizing | 0.662 | D | 0.493 | neutral | N | 0.491258547 | 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.