Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26756 | 80491;80492;80493 | chr2:178565866;178565865;178565864 | chr2:179430593;179430592;179430591 |
| N2AB | 25115 | 75568;75569;75570 | chr2:178565866;178565865;178565864 | chr2:179430593;179430592;179430591 |
| N2A | 24188 | 72787;72788;72789 | chr2:178565866;178565865;178565864 | chr2:179430593;179430592;179430591 |
| N2B | 17691 | 53296;53297;53298 | chr2:178565866;178565865;178565864 | chr2:179430593;179430592;179430591 |
| Novex-1 | 17816 | 53671;53672;53673 | chr2:178565866;178565865;178565864 | chr2:179430593;179430592;179430591 |
| Novex-2 | 17883 | 53872;53873;53874 | chr2:178565866;178565865;178565864 | chr2:179430593;179430592;179430591 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs1417881535  |
-1.616 | 1.0 | N | 0.749 | 0.695 | 0.805554429891 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs1417881535 |
-1.616 | 1.0 | N | 0.749 | 0.695 | 0.805554429891 | gnomAD-4.0.0 | 3.18317E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02535E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9763 | likely_pathogenic | 0.9773 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| R/C | 0.5698 | likely_pathogenic | 0.5907 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| R/D | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/E | 0.9588 | likely_pathogenic | 0.9586 | pathogenic | -0.568 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/F | 0.9927 | likely_pathogenic | 0.9922 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| R/G | 0.9676 | likely_pathogenic | 0.9651 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.55530083 | None | None | N |
| R/H | 0.491 | ambiguous | 0.4963 | ambiguous | -1.835 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/I | 0.9643 | likely_pathogenic | 0.9648 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.528802784 | None | None | N |
| R/K | 0.4893 | ambiguous | 0.5089 | ambiguous | -1.225 | Destabilizing | 0.995 | D | 0.646 | neutral | N | 0.501655947 | None | None | N |
| R/L | 0.9412 | likely_pathogenic | 0.9401 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| R/M | 0.9627 | likely_pathogenic | 0.9641 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| R/N | 0.9888 | likely_pathogenic | 0.988 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| R/Q | 0.4295 | ambiguous | 0.4431 | ambiguous | -0.97 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/S | 0.9787 | likely_pathogenic | 0.9772 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.5111886 | None | None | N |
| R/T | 0.9674 | likely_pathogenic | 0.966 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.507176129 | None | None | N |
| R/V | 0.9653 | likely_pathogenic | 0.9666 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| R/W | 0.8614 | likely_pathogenic | 0.8543 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/Y | 0.9728 | likely_pathogenic | 0.9702 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.836 | deleterious | 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.