Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27244 | 81955;81956;81957 | chr2:178564402;178564401;178564400 | chr2:179429129;179429128;179429127 |
| N2AB | 25603 | 77032;77033;77034 | chr2:178564402;178564401;178564400 | chr2:179429129;179429128;179429127 |
| N2A | 24676 | 74251;74252;74253 | chr2:178564402;178564401;178564400 | chr2:179429129;179429128;179429127 |
| N2B | 18179 | 54760;54761;54762 | chr2:178564402;178564401;178564400 | chr2:179429129;179429128;179429127 |
| Novex-1 | 18304 | 55135;55136;55137 | chr2:178564402;178564401;178564400 | chr2:179429129;179429128;179429127 |
| Novex-2 | 18371 | 55336;55337;55338 | chr2:178564402;178564401;178564400 | chr2:179429129;179429128;179429127 |
| 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 | None | None | 1.0 | N | 0.735 | 0.538 | 0.643776053401 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9874 | likely_pathogenic | 0.9851 | pathogenic | -2.015 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| R/C | 0.688 | likely_pathogenic | 0.6261 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| R/D | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| R/E | 0.978 | likely_pathogenic | 0.9717 | pathogenic | -0.697 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/F | 0.9915 | likely_pathogenic | 0.9871 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| R/G | 0.9867 | likely_pathogenic | 0.9817 | pathogenic | -2.349 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.563859205 | None | None | N |
| R/H | 0.4886 | ambiguous | 0.3556 | ambiguous | -2.222 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| R/I | 0.9754 | likely_pathogenic | 0.9709 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.522877755 | None | None | N |
| R/K | 0.5654 | likely_pathogenic | 0.5495 | ambiguous | -1.358 | Destabilizing | 0.997 | D | 0.66 | neutral | N | 0.512683084 | None | None | N |
| R/L | 0.9565 | likely_pathogenic | 0.9466 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/M | 0.9776 | likely_pathogenic | 0.9737 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/N | 0.9925 | likely_pathogenic | 0.9896 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/Q | 0.6045 | likely_pathogenic | 0.5251 | ambiguous | -1.168 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| R/S | 0.9908 | likely_pathogenic | 0.9871 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.526330341 | None | None | N |
| R/T | 0.9839 | likely_pathogenic | 0.9816 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.507011544 | None | None | N |
| R/V | 0.9766 | likely_pathogenic | 0.9737 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/W | 0.8799 | likely_pathogenic | 0.8051 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/Y | 0.9668 | likely_pathogenic | 0.9477 | pathogenic | -0.685 | 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.