Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21543 | 64852;64853;64854 | chr2:178585117;178585116;178585115 | chr2:179449844;179449843;179449842 |
| N2AB | 19902 | 59929;59930;59931 | chr2:178585117;178585116;178585115 | chr2:179449844;179449843;179449842 |
| N2A | 18975 | 57148;57149;57150 | chr2:178585117;178585116;178585115 | chr2:179449844;179449843;179449842 |
| N2B | 12478 | 37657;37658;37659 | chr2:178585117;178585116;178585115 | chr2:179449844;179449843;179449842 |
| Novex-1 | 12603 | 38032;38033;38034 | chr2:178585117;178585116;178585115 | chr2:179449844;179449843;179449842 |
| Novex-2 | 12670 | 38233;38234;38235 | chr2:178585117;178585116;178585115 | chr2:179449844;179449843;179449842 |
| 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/H | rs745843637  |
-0.982 | 1.0 | D | 0.739 | 0.7 | 0.352476196916 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| N/H | rs745843637 |
-0.982 | 1.0 | D | 0.739 | 0.7 | 0.352476196916 | gnomAD-4.0.0 | 1.59374E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0292E-05 |
| N/K | rs2048644499 |
None | 1.0 | D | 0.727 | 0.569 | 0.223847106136 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs2048644499 |
None | 1.0 | D | 0.727 | 0.569 | 0.223847106136 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 0 | 6.54879E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9951 | likely_pathogenic | 0.9924 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| N/C | 0.9614 | likely_pathogenic | 0.949 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| N/D | 0.9865 | likely_pathogenic | 0.9802 | pathogenic | -1.166 | Destabilizing | 0.999 | D | 0.581 | neutral | D | 0.539421393 | None | None | N |
| N/E | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -1.176 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| N/F | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| N/G | 0.9889 | likely_pathogenic | 0.9831 | pathogenic | -0.638 | Destabilizing | 0.999 | D | 0.529 | neutral | None | None | None | None | N |
| N/H | 0.9824 | likely_pathogenic | 0.9786 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.529332535 | None | None | N |
| N/I | 0.9913 | likely_pathogenic | 0.9902 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.54094233 | None | None | N |
| N/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.540181861 | None | None | N |
| N/L | 0.9914 | likely_pathogenic | 0.99 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| N/M | 0.9926 | likely_pathogenic | 0.9908 | pathogenic | 0.561 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| N/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/R | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | 0.247 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/S | 0.867 | likely_pathogenic | 0.8039 | pathogenic | -0.346 | Destabilizing | 0.999 | D | 0.546 | neutral | N | 0.500553083 | None | None | N |
| N/T | 0.9573 | likely_pathogenic | 0.9334 | pathogenic | -0.234 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | D | 0.539674882 | None | None | N |
| N/V | 0.9898 | likely_pathogenic | 0.9887 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9917 | likely_pathogenic | 0.9914 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.54068884 | 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.