Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2078 | 6457;6458;6459 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
| N2AB | 2078 | 6457;6458;6459 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
| N2A | 2078 | 6457;6458;6459 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
| N2B | 2032 | 6319;6320;6321 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
| Novex-1 | 2032 | 6319;6320;6321 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
| Novex-2 | 2032 | 6319;6320;6321 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
| Novex-3 | 2078 | 6457;6458;6459 | chr2:178775632;178775631;178775630 | chr2:179640359;179640358;179640357 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs777863327  |
-2.02 | 1.0 | D | 0.882 | 0.779 | 0.796722845579 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| P/S | rs777863327 |
-2.02 | 1.0 | D | 0.882 | 0.779 | 0.796722845579 | gnomAD-4.0.0 | 1.27247E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.99958E-05 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9616 | likely_pathogenic | 0.9525 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.652992658 | None | None | N |
| P/C | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/F | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/G | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/H | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/I | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/L | 0.9951 | likely_pathogenic | 0.9941 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.714613076 | None | None | N |
| P/M | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Q | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.747972501 | None | None | N |
| P/R | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.747972501 | None | None | N |
| P/S | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.694075572 | None | None | N |
| P/T | 0.9974 | likely_pathogenic | 0.9966 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.747869201 | None | None | N |
| P/V | 0.9945 | likely_pathogenic | 0.9938 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/Y | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.871 | 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.