Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9788 | 29587;29588;29589 | chr2:178706512;178706511;178706510 | chr2:179571239;179571238;179571237 |
| N2AB | 9471 | 28636;28637;28638 | chr2:178706512;178706511;178706510 | chr2:179571239;179571238;179571237 |
| N2A | 8544 | 25855;25856;25857 | chr2:178706512;178706511;178706510 | chr2:179571239;179571238;179571237 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs776218040  |
-0.956 | 1.0 | None | 0.781 | 0.901 | 0.950755473975 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | rs776218040 |
-0.956 | 1.0 | None | 0.781 | 0.901 | 0.950755473975 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs776218040 |
-0.956 | 1.0 | None | 0.781 | 0.901 | 0.950755473975 | gnomAD-4.0.0 | 2.5627E-06 | None | None | None | None | N | None | 1.69411E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34041E-05 | 0 |
| V/M | rs2075898063 |
None | 1.0 | None | 0.863 | 0.613 | 0.697263286892 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9481 | likely_pathogenic | 0.8341 | pathogenic | -1.871 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| V/C | 0.9938 | likely_pathogenic | 0.9855 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/D | 0.9984 | likely_pathogenic | 0.993 | pathogenic | -3.215 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/E | 0.994 | likely_pathogenic | 0.9792 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/F | 0.9834 | likely_pathogenic | 0.9232 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/G | 0.954 | likely_pathogenic | 0.8739 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/H | 0.9993 | likely_pathogenic | 0.9972 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| V/I | 0.2879 | likely_benign | 0.1855 | benign | -0.973 | Destabilizing | 0.998 | D | 0.742 | deleterious | None | None | None | None | N |
| V/K | 0.9958 | likely_pathogenic | 0.989 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/L | 0.9709 | likely_pathogenic | 0.8992 | pathogenic | -0.973 | Destabilizing | 0.997 | D | 0.781 | deleterious | None | None | None | None | N |
| V/M | 0.9684 | likely_pathogenic | 0.8678 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/N | 0.9955 | likely_pathogenic | 0.9826 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/P | 0.9966 | likely_pathogenic | 0.9891 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/Q | 0.9966 | likely_pathogenic | 0.9889 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/R | 0.9924 | likely_pathogenic | 0.9826 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/S | 0.9837 | likely_pathogenic | 0.9449 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| V/T | 0.9303 | likely_pathogenic | 0.8341 | pathogenic | -2.157 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| V/W | 0.9996 | likely_pathogenic | 0.998 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/Y | 0.9981 | likely_pathogenic | 0.9924 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.852 | 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.