Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21607 | 65044;65045;65046 | chr2:178584822;178584821;178584820 | chr2:179449549;179449548;179449547 |
| N2AB | 19966 | 60121;60122;60123 | chr2:178584822;178584821;178584820 | chr2:179449549;179449548;179449547 |
| N2A | 19039 | 57340;57341;57342 | chr2:178584822;178584821;178584820 | chr2:179449549;179449548;179449547 |
| N2B | 12542 | 37849;37850;37851 | chr2:178584822;178584821;178584820 | chr2:179449549;179449548;179449547 |
| Novex-1 | 12667 | 38224;38225;38226 | chr2:178584822;178584821;178584820 | chr2:179449549;179449548;179449547 |
| Novex-2 | 12734 | 38425;38426;38427 | chr2:178584822;178584821;178584820 | chr2:179449549;179449548;179449547 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | N | 0.682 | 0.521 | 0.772153048895 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9892 | likely_pathogenic | 0.9922 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| W/C | 0.9945 | likely_pathogenic | 0.9958 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.512416368 | None | None | I |
| W/D | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| W/E | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| W/F | 0.5813 | likely_pathogenic | 0.5703 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| W/G | 0.9687 | likely_pathogenic | 0.9783 | pathogenic | -2.831 | Highly Destabilizing | 1.0 | D | 0.662 | neutral | D | 0.5332921 | None | None | I |
| W/H | 0.9912 | likely_pathogenic | 0.993 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| W/I | 0.9823 | likely_pathogenic | 0.9881 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| W/K | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| W/L | 0.9566 | likely_pathogenic | 0.9695 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.662 | neutral | D | 0.532531631 | None | None | I |
| W/M | 0.9836 | likely_pathogenic | 0.9881 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| W/N | 0.9962 | likely_pathogenic | 0.9972 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| W/P | 0.9945 | likely_pathogenic | 0.9953 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| W/R | 0.9973 | likely_pathogenic | 0.9983 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.538407435 | None | None | I |
| W/S | 0.9819 | likely_pathogenic | 0.9875 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.525023213 | None | None | I |
| W/T | 0.9844 | likely_pathogenic | 0.9895 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| W/V | 0.9798 | likely_pathogenic | 0.9852 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| W/Y | 0.8613 | likely_pathogenic | 0.8614 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.582 | 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.