Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19067 | 57424;57425;57426 | chr2:178597971;178597970;178597969 | chr2:179462698;179462697;179462696 |
| N2AB | 17426 | 52501;52502;52503 | chr2:178597971;178597970;178597969 | chr2:179462698;179462697;179462696 |
| N2A | 16499 | 49720;49721;49722 | chr2:178597971;178597970;178597969 | chr2:179462698;179462697;179462696 |
| N2B | 10002 | 30229;30230;30231 | chr2:178597971;178597970;178597969 | chr2:179462698;179462697;179462696 |
| Novex-1 | 10127 | 30604;30605;30606 | chr2:178597971;178597970;178597969 | chr2:179462698;179462697;179462696 |
| Novex-2 | 10194 | 30805;30806;30807 | chr2:178597971;178597970;178597969 | chr2:179462698;179462697;179462696 |
| 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/K | rs762173832  |
-0.276 | 1.0 | D | 0.751 | 0.592 | 0.248417906384 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67898E-04 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs762173832 |
-0.276 | 1.0 | D | 0.751 | 0.592 | 0.248417906384 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs762173832 |
-0.276 | 1.0 | D | 0.751 | 0.592 | 0.248417906384 | gnomAD-4.0.0 | 1.41005E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.67471E-04 | 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 | 0.9944 | likely_pathogenic | 0.9941 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| N/C | 0.9384 | likely_pathogenic | 0.9414 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/D | 0.9885 | likely_pathogenic | 0.9882 | pathogenic | -2.431 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.552480127 | None | None | N |
| N/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.293 | Highly Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| N/F | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| N/G | 0.9792 | likely_pathogenic | 0.978 | pathogenic | -0.343 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| N/H | 0.9807 | likely_pathogenic | 0.9773 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.542733664 | None | None | N |
| N/I | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | 0.491 | Stabilizing | 1.0 | D | 0.781 | deleterious | D | 0.554508043 | None | None | N |
| N/K | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.751 | deleterious | D | 0.553240596 | None | None | N |
| N/L | 0.9838 | likely_pathogenic | 0.9773 | pathogenic | 0.491 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| N/M | 0.9936 | likely_pathogenic | 0.9929 | pathogenic | 0.552 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/P | 0.9972 | likely_pathogenic | 0.997 | pathogenic | 0.323 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/Q | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/R | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/S | 0.7358 | likely_pathogenic | 0.7295 | pathogenic | -0.665 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.502090928 | None | None | N |
| N/T | 0.9248 | likely_pathogenic | 0.8973 | pathogenic | -0.404 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | N | 0.507949824 | None | None | N |
| N/V | 0.9918 | likely_pathogenic | 0.9911 | pathogenic | 0.323 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/Y | 0.9957 | likely_pathogenic | 0.9952 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.791 | deleterious | D | 0.554254554 | 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.