Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28140 | 84643;84644;84645 | chr2:178561714;178561713;178561712 | chr2:179426441;179426440;179426439 |
| N2AB | 26499 | 79720;79721;79722 | chr2:178561714;178561713;178561712 | chr2:179426441;179426440;179426439 |
| N2A | 25572 | 76939;76940;76941 | chr2:178561714;178561713;178561712 | chr2:179426441;179426440;179426439 |
| N2B | 19075 | 57448;57449;57450 | chr2:178561714;178561713;178561712 | chr2:179426441;179426440;179426439 |
| Novex-1 | 19200 | 57823;57824;57825 | chr2:178561714;178561713;178561712 | chr2:179426441;179426440;179426439 |
| Novex-2 | 19267 | 58024;58025;58026 | chr2:178561714;178561713;178561712 | chr2:179426441;179426440;179426439 |
| 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 | 0.994 | N | 0.566 | 0.312 | 0.420939154896 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| Y/H | rs1703729439  |
None | 0.007 | N | 0.355 | 0.121 | 0.214338557667 | gnomAD-4.0.0 | 1.59848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87289E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3505 | ambiguous | 0.3198 | benign | -2.673 | Highly Destabilizing | 0.016 | N | 0.434 | neutral | None | None | None | None | N |
| Y/C | 0.104 | likely_benign | 0.1116 | benign | -1.161 | Destabilizing | 0.994 | D | 0.566 | neutral | N | 0.462704596 | None | None | N |
| Y/D | 0.4103 | ambiguous | 0.3742 | ambiguous | -1.935 | Destabilizing | 0.521 | D | 0.553 | neutral | N | 0.474225486 | None | None | N |
| Y/E | 0.7386 | likely_pathogenic | 0.6895 | pathogenic | -1.802 | Destabilizing | 0.742 | D | 0.549 | neutral | None | None | None | None | N |
| Y/F | 0.0774 | likely_benign | 0.0789 | benign | -1.047 | Destabilizing | 0.815 | D | 0.511 | neutral | N | 0.419005241 | None | None | N |
| Y/G | 0.3568 | ambiguous | 0.3301 | benign | -3.027 | Highly Destabilizing | 0.373 | N | 0.499 | neutral | None | None | None | None | N |
| Y/H | 0.1931 | likely_benign | 0.1785 | benign | -1.354 | Destabilizing | 0.007 | N | 0.355 | neutral | N | 0.473971996 | None | None | N |
| Y/I | 0.4709 | ambiguous | 0.4517 | ambiguous | -1.546 | Destabilizing | 0.854 | D | 0.607 | neutral | None | None | None | None | N |
| Y/K | 0.7641 | likely_pathogenic | 0.6931 | pathogenic | -1.384 | Destabilizing | 0.742 | D | 0.543 | neutral | None | None | None | None | N |
| Y/L | 0.4914 | ambiguous | 0.4693 | ambiguous | -1.546 | Destabilizing | 0.742 | D | 0.505 | neutral | None | None | None | None | N |
| Y/M | 0.6628 | likely_pathogenic | 0.6317 | pathogenic | -1.156 | Destabilizing | 0.984 | D | 0.593 | neutral | None | None | None | None | N |
| Y/N | 0.2555 | likely_benign | 0.2259 | benign | -1.831 | Destabilizing | 0.007 | N | 0.425 | neutral | N | 0.467224047 | None | None | N |
| Y/P | 0.3241 | likely_benign | 0.3125 | benign | -1.925 | Destabilizing | 0.953 | D | 0.595 | neutral | None | None | None | None | N |
| Y/Q | 0.6339 | likely_pathogenic | 0.5785 | pathogenic | -1.756 | Destabilizing | 0.91 | D | 0.624 | neutral | None | None | None | None | N |
| Y/R | 0.6133 | likely_pathogenic | 0.5483 | ambiguous | -0.928 | Destabilizing | 0.742 | D | 0.595 | neutral | None | None | None | None | N |
| Y/S | 0.1725 | likely_benign | 0.1682 | benign | -2.341 | Highly Destabilizing | 0.309 | N | 0.505 | neutral | N | 0.497831384 | None | None | N |
| Y/T | 0.4252 | ambiguous | 0.4015 | ambiguous | -2.109 | Highly Destabilizing | 0.742 | D | 0.553 | neutral | None | None | None | None | N |
| Y/V | 0.3433 | ambiguous | 0.3364 | benign | -1.925 | Destabilizing | 0.742 | D | 0.502 | neutral | None | None | None | None | N |
| Y/W | 0.3368 | likely_benign | 0.3208 | benign | -0.466 | Destabilizing | 0.996 | D | 0.567 | 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.