Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24521 | 73786;73787;73788 | chr2:178572571;178572570;178572569 | chr2:179437298;179437297;179437296 |
| N2AB | 22880 | 68863;68864;68865 | chr2:178572571;178572570;178572569 | chr2:179437298;179437297;179437296 |
| N2A | 21953 | 66082;66083;66084 | chr2:178572571;178572570;178572569 | chr2:179437298;179437297;179437296 |
| N2B | 15456 | 46591;46592;46593 | chr2:178572571;178572570;178572569 | chr2:179437298;179437297;179437296 |
| Novex-1 | 15581 | 46966;46967;46968 | chr2:178572571;178572570;178572569 | chr2:179437298;179437297;179437296 |
| Novex-2 | 15648 | 47167;47168;47169 | chr2:178572571;178572570;178572569 | chr2:179437298;179437297;179437296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.806 | 0.409 | 0.330589388543 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.232 | likely_benign | 0.2321 | benign | -0.854 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.485496567 | None | None | N |
| G/C | 0.5369 | ambiguous | 0.4754 | ambiguous | -1.294 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.537469155 | None | None | N |
| G/D | 0.8935 | likely_pathogenic | 0.8634 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.503527992 | None | None | N |
| G/E | 0.9038 | likely_pathogenic | 0.8715 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/F | 0.9386 | likely_pathogenic | 0.9268 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/H | 0.939 | likely_pathogenic | 0.924 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/I | 0.9005 | likely_pathogenic | 0.8664 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/K | 0.9804 | likely_pathogenic | 0.9722 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/L | 0.8015 | likely_pathogenic | 0.7703 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/M | 0.8751 | likely_pathogenic | 0.8537 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/N | 0.8415 | likely_pathogenic | 0.8006 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/P | 0.9944 | likely_pathogenic | 0.9936 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.9138 | likely_pathogenic | 0.8921 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/R | 0.9571 | likely_pathogenic | 0.9421 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.524680818 | None | None | N |
| G/S | 0.1575 | likely_benign | 0.1521 | benign | -1.414 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.477666755 | None | None | N |
| G/T | 0.6282 | likely_pathogenic | 0.5691 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.8327 | likely_pathogenic | 0.7764 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.525694776 | None | None | N |
| G/W | 0.9329 | likely_pathogenic | 0.9185 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/Y | 0.908 | likely_pathogenic | 0.8915 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.808 | 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.