Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23786 | 71581;71582;71583 | chr2:178574776;178574775;178574774 | chr2:179439503;179439502;179439501 |
| N2AB | 22145 | 66658;66659;66660 | chr2:178574776;178574775;178574774 | chr2:179439503;179439502;179439501 |
| N2A | 21218 | 63877;63878;63879 | chr2:178574776;178574775;178574774 | chr2:179439503;179439502;179439501 |
| N2B | 14721 | 44386;44387;44388 | chr2:178574776;178574775;178574774 | chr2:179439503;179439502;179439501 |
| Novex-1 | 14846 | 44761;44762;44763 | chr2:178574776;178574775;178574774 | chr2:179439503;179439502;179439501 |
| Novex-2 | 14913 | 44962;44963;44964 | chr2:178574776;178574775;178574774 | chr2:179439503;179439502;179439501 |
| 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 | rs758011912  |
-1.162 | 0.997 | N | 0.585 | 0.418 | 0.53782465974 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.59E-05 | None | 0 | 0 | 0 |
| Y/C | rs758011912 |
-1.162 | 0.997 | N | 0.585 | 0.418 | 0.53782465974 | gnomAD-4.0.0 | 3.42477E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.81058E-05 | 0 |
| Y/H | None | None | 0.989 | N | 0.487 | 0.488 | 0.447213685739 | gnomAD-4.0.0 | 1.59516E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03232E-05 |
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 | 0.9035 | likely_pathogenic | 0.8677 | pathogenic | -2.046 | Highly Destabilizing | 0.915 | D | 0.505 | neutral | None | None | None | None | I |
| Y/C | 0.2105 | likely_benign | 0.1713 | benign | -1.417 | Destabilizing | 0.997 | D | 0.585 | neutral | N | 0.451683381 | None | None | I |
| Y/D | 0.9831 | likely_pathogenic | 0.9708 | pathogenic | -2.276 | Highly Destabilizing | 0.989 | D | 0.583 | neutral | N | 0.50954644 | None | None | I |
| Y/E | 0.9883 | likely_pathogenic | 0.983 | pathogenic | -2.075 | Highly Destabilizing | 0.991 | D | 0.567 | neutral | None | None | None | None | I |
| Y/F | 0.0658 | likely_benign | 0.0558 | benign | -0.588 | Destabilizing | 0.002 | N | 0.171 | neutral | N | 0.407833816 | None | None | I |
| Y/G | 0.911 | likely_pathogenic | 0.8851 | pathogenic | -2.436 | Highly Destabilizing | 0.915 | D | 0.529 | neutral | None | None | None | None | I |
| Y/H | 0.7151 | likely_pathogenic | 0.6577 | pathogenic | -1.206 | Destabilizing | 0.989 | D | 0.487 | neutral | N | 0.506632586 | None | None | I |
| Y/I | 0.6788 | likely_pathogenic | 0.6209 | pathogenic | -0.788 | Destabilizing | 0.728 | D | 0.424 | neutral | None | None | None | None | I |
| Y/K | 0.9751 | likely_pathogenic | 0.9663 | pathogenic | -1.804 | Destabilizing | 0.991 | D | 0.568 | neutral | None | None | None | None | I |
| Y/L | 0.6658 | likely_pathogenic | 0.634 | pathogenic | -0.788 | Destabilizing | 0.525 | D | 0.478 | neutral | None | None | None | None | I |
| Y/M | 0.7409 | likely_pathogenic | 0.6939 | pathogenic | -0.721 | Destabilizing | 0.974 | D | 0.52 | neutral | None | None | None | None | I |
| Y/N | 0.8969 | likely_pathogenic | 0.851 | pathogenic | -2.647 | Highly Destabilizing | 0.989 | D | 0.573 | neutral | N | 0.497936645 | None | None | I |
| Y/P | 0.9963 | likely_pathogenic | 0.9947 | pathogenic | -1.215 | Destabilizing | 0.991 | D | 0.588 | neutral | None | None | None | None | I |
| Y/Q | 0.9571 | likely_pathogenic | 0.9403 | pathogenic | -2.297 | Highly Destabilizing | 0.991 | D | 0.525 | neutral | None | None | None | None | I |
| Y/R | 0.9457 | likely_pathogenic | 0.9315 | pathogenic | -1.832 | Destabilizing | 0.991 | D | 0.577 | neutral | None | None | None | None | I |
| Y/S | 0.8476 | likely_pathogenic | 0.7886 | pathogenic | -3.004 | Highly Destabilizing | 0.891 | D | 0.523 | neutral | N | 0.482541415 | None | None | I |
| Y/T | 0.9098 | likely_pathogenic | 0.8691 | pathogenic | -2.677 | Highly Destabilizing | 0.915 | D | 0.539 | neutral | None | None | None | None | I |
| Y/V | 0.5963 | likely_pathogenic | 0.5243 | ambiguous | -1.215 | Destabilizing | 0.842 | D | 0.433 | neutral | None | None | None | None | I |
| Y/W | 0.5111 | ambiguous | 0.4798 | ambiguous | -0.051 | Destabilizing | 0.991 | D | 0.478 | 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.