Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22056 | 66391;66392;66393 | chr2:178582203;178582202;178582201 | chr2:179446930;179446929;179446928 |
| N2AB | 20415 | 61468;61469;61470 | chr2:178582203;178582202;178582201 | chr2:179446930;179446929;179446928 |
| N2A | 19488 | 58687;58688;58689 | chr2:178582203;178582202;178582201 | chr2:179446930;179446929;179446928 |
| N2B | 12991 | 39196;39197;39198 | chr2:178582203;178582202;178582201 | chr2:179446930;179446929;179446928 |
| Novex-1 | 13116 | 39571;39572;39573 | chr2:178582203;178582202;178582201 | chr2:179446930;179446929;179446928 |
| Novex-2 | 13183 | 39772;39773;39774 | chr2:178582203;178582202;178582201 | chr2:179446930;179446929;179446928 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs2047924833  |
None | 1.0 | D | 0.807 | 0.775 | 0.728831618032 | gnomAD-4.0.0 | 3.23363E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57289E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7827 | likely_pathogenic | 0.6695 | pathogenic | -1.399 | Destabilizing | 0.999 | D | 0.791 | deleterious | D | 0.628181709 | None | None | N |
| P/C | 0.9913 | likely_pathogenic | 0.983 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -3.147 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9966 | pathogenic | -3.094 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9993 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/G | 0.9922 | likely_pathogenic | 0.9843 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/H | 0.9987 | likely_pathogenic | 0.9968 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/I | 0.9956 | likely_pathogenic | 0.9863 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9977 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/L | 0.9868 | likely_pathogenic | 0.9613 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.628585317 | None | None | N |
| P/M | 0.9981 | likely_pathogenic | 0.9948 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9988 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Q | 0.9978 | likely_pathogenic | 0.9938 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.644806483 | None | None | N |
| P/R | 0.996 | likely_pathogenic | 0.9914 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.644604678 | None | None | N |
| P/S | 0.9789 | likely_pathogenic | 0.9544 | pathogenic | -1.951 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.644402874 | None | None | N |
| P/T | 0.9843 | likely_pathogenic | 0.9568 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.644604678 | None | None | N |
| P/V | 0.9778 | likely_pathogenic | 0.9454 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9994 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.87 | 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.