Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33471 | 100636;100637;100638 | chr2:178536336;178536335;178536334 | chr2:179401063;179401062;179401061 |
| N2AB | 31830 | 95713;95714;95715 | chr2:178536336;178536335;178536334 | chr2:179401063;179401062;179401061 |
| N2A | 30903 | 92932;92933;92934 | chr2:178536336;178536335;178536334 | chr2:179401063;179401062;179401061 |
| N2B | 24406 | 73441;73442;73443 | chr2:178536336;178536335;178536334 | chr2:179401063;179401062;179401061 |
| Novex-1 | 24531 | 73816;73817;73818 | chr2:178536336;178536335;178536334 | chr2:179401063;179401062;179401061 |
| Novex-2 | 24598 | 74017;74018;74019 | chr2:178536336;178536335;178536334 | chr2:179401063;179401062;179401061 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1313883855  |
None | 0.999 | D | 0.613 | 0.648 | 0.522559126029 | gnomAD-4.0.0 | 3.18308E-06 | None | None | None | None | N | None | 0 | 4.57519E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs1313883855 |
-0.362 | 1.0 | D | 0.788 | 0.69 | 0.642232531769 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/Y | rs1313883855 |
-0.362 | 1.0 | D | 0.788 | 0.69 | 0.642232531769 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85835E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9945 | likely_pathogenic | 0.9923 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/C | 0.9806 | likely_pathogenic | 0.9715 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/D | 0.9845 | likely_pathogenic | 0.9808 | pathogenic | -2.278 | Highly Destabilizing | 0.999 | D | 0.613 | neutral | D | 0.546742455 | None | None | N |
| N/E | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -2.127 | Highly Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/F | 0.9978 | likely_pathogenic | 0.9968 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| N/G | 0.985 | likely_pathogenic | 0.9796 | pathogenic | -0.553 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| N/H | 0.9799 | likely_pathogenic | 0.9712 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.547756413 | None | None | N |
| N/I | 0.982 | likely_pathogenic | 0.9759 | pathogenic | 0.458 | Stabilizing | 1.0 | D | 0.774 | deleterious | D | 0.548263392 | None | None | N |
| N/K | 0.9975 | likely_pathogenic | 0.9965 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.535639639 | None | None | N |
| N/L | 0.9797 | likely_pathogenic | 0.9732 | pathogenic | 0.458 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/M | 0.9896 | likely_pathogenic | 0.9857 | pathogenic | 0.628 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/P | 0.9979 | likely_pathogenic | 0.997 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/Q | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/R | 0.9966 | likely_pathogenic | 0.9958 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/S | 0.9118 | likely_pathogenic | 0.8851 | pathogenic | -0.804 | Destabilizing | 0.999 | D | 0.592 | neutral | N | 0.490553131 | None | None | N |
| N/T | 0.9514 | likely_pathogenic | 0.9429 | pathogenic | -0.51 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.503943217 | None | None | N |
| N/V | 0.9849 | likely_pathogenic | 0.9773 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/W | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/Y | 0.9794 | likely_pathogenic | 0.9722 | pathogenic | 0.076 | Stabilizing | 1.0 | D | 0.788 | deleterious | D | 0.548009902 | 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.