Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4991 | 15196;15197;15198 | chr2:178734953;178734952;178734951 | chr2:179599680;179599679;179599678 |
| N2AB | 4674 | 14245;14246;14247 | chr2:178734953;178734952;178734951 | chr2:179599680;179599679;179599678 |
| N2A | 3747 | 11464;11465;11466 | chr2:178734953;178734952;178734951 | chr2:179599680;179599679;179599678 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.999 | N | 0.292 | 0.433 | 0.436886369515 | gnomAD-4.0.0 | 1.37791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.3483E-05 | 0 |
| Y/F | rs1422915877  |
-0.355 | 0.035 | N | 0.135 | 0.128 | 0.219573609325 | gnomAD-2.1.1 | 4.36E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.84E-06 | 0 |
| Y/F | rs1422915877 |
-0.355 | 0.035 | N | 0.135 | 0.128 | 0.219573609325 | gnomAD-4.0.0 | 1.37791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80825E-06 | 0 | 0 |
| Y/N | None | None | 0.996 | N | 0.324 | 0.3 | 0.546780063783 | gnomAD-4.0.0 | 2.75639E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61706E-06 | 0 | 0 |
| Y/S | None | None | 0.986 | N | 0.33 | 0.435 | 0.55350970329 | gnomAD-4.0.0 | 6.88954E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04126E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5051 | ambiguous | 0.6502 | pathogenic | -2.015 | Highly Destabilizing | 0.863 | D | 0.247 | neutral | None | None | None | None | N |
| Y/C | 0.1737 | likely_benign | 0.2461 | benign | -0.516 | Destabilizing | 0.999 | D | 0.292 | neutral | N | 0.451396071 | None | None | N |
| Y/D | 0.4607 | ambiguous | 0.654 | pathogenic | -0.595 | Destabilizing | 0.996 | D | 0.359 | neutral | N | 0.451396511 | None | None | N |
| Y/E | 0.7436 | likely_pathogenic | 0.8617 | pathogenic | -0.542 | Destabilizing | 0.997 | D | 0.341 | neutral | None | None | None | None | N |
| Y/F | 0.0956 | likely_benign | 0.1109 | benign | -1.01 | Destabilizing | 0.035 | N | 0.135 | neutral | N | 0.449984349 | None | None | N |
| Y/G | 0.5715 | likely_pathogenic | 0.721 | pathogenic | -2.325 | Highly Destabilizing | 0.99 | D | 0.376 | neutral | None | None | None | None | N |
| Y/H | 0.2559 | likely_benign | 0.308 | benign | -1.039 | Destabilizing | 0.996 | D | 0.326 | neutral | N | 0.4478245 | None | None | N |
| Y/I | 0.3854 | ambiguous | 0.492 | ambiguous | -1.093 | Destabilizing | 0.079 | N | 0.119 | neutral | None | None | None | None | N |
| Y/K | 0.7067 | likely_pathogenic | 0.8129 | pathogenic | -0.757 | Destabilizing | 0.997 | D | 0.341 | neutral | None | None | None | None | N |
| Y/L | 0.3663 | ambiguous | 0.4536 | ambiguous | -1.093 | Destabilizing | 0.02 | N | 0.125 | neutral | None | None | None | None | N |
| Y/M | 0.5787 | likely_pathogenic | 0.682 | pathogenic | -0.656 | Destabilizing | 0.982 | D | 0.307 | neutral | None | None | None | None | N |
| Y/N | 0.2722 | likely_benign | 0.4075 | ambiguous | -0.886 | Destabilizing | 0.996 | D | 0.324 | neutral | N | 0.451568067 | None | None | N |
| Y/P | 0.861 | likely_pathogenic | 0.9365 | pathogenic | -1.393 | Destabilizing | 0.997 | D | 0.341 | neutral | None | None | None | None | N |
| Y/Q | 0.6002 | likely_pathogenic | 0.7236 | pathogenic | -0.863 | Destabilizing | 0.997 | D | 0.308 | neutral | None | None | None | None | N |
| Y/R | 0.5248 | ambiguous | 0.6349 | pathogenic | -0.377 | Destabilizing | 0.997 | D | 0.323 | neutral | None | None | None | None | N |
| Y/S | 0.2158 | likely_benign | 0.3268 | benign | -1.395 | Destabilizing | 0.986 | D | 0.33 | neutral | N | 0.447637246 | None | None | N |
| Y/T | 0.4224 | ambiguous | 0.563 | ambiguous | -1.243 | Destabilizing | 0.969 | D | 0.354 | neutral | None | None | None | None | N |
| Y/V | 0.2847 | likely_benign | 0.3682 | ambiguous | -1.393 | Destabilizing | 0.759 | D | 0.246 | neutral | None | None | None | None | N |
| Y/W | 0.4792 | ambiguous | 0.5218 | ambiguous | -0.764 | Destabilizing | 0.997 | D | 0.331 | 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.