Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16637 | 50134;50135;50136 | chr2:178612812;178612811;178612810 | chr2:179477539;179477538;179477537 |
| N2AB | 14996 | 45211;45212;45213 | chr2:178612812;178612811;178612810 | chr2:179477539;179477538;179477537 |
| N2A | 14069 | 42430;42431;42432 | chr2:178612812;178612811;178612810 | chr2:179477539;179477538;179477537 |
| N2B | 7572 | 22939;22940;22941 | chr2:178612812;178612811;178612810 | chr2:179477539;179477538;179477537 |
| Novex-1 | 7697 | 23314;23315;23316 | chr2:178612812;178612811;178612810 | chr2:179477539;179477538;179477537 |
| Novex-2 | 7764 | 23515;23516;23517 | chr2:178612812;178612811;178612810 | chr2:179477539;179477538;179477537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | D | 0.806 | 0.676 | 0.715176864814 | gnomAD-4.0.0 | 1.59437E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4346E-05 | 0 |
| S/N | rs181141442  |
None | 0.994 | D | 0.847 | 0.471 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| S/N | rs181141442 |
None | 0.994 | D | 0.847 | 0.471 | None | gnomAD-4.0.0 | 1.2405E-06 | None | None | None | None | N | None | 0 | 1.67029E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60308E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3542 | ambiguous | 0.3675 | ambiguous | -0.812 | Destabilizing | 0.98 | D | 0.774 | deleterious | None | None | None | None | N |
| S/C | 0.5693 | likely_pathogenic | 0.6019 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.725624552 | None | None | N |
| S/D | 0.9905 | likely_pathogenic | 0.9939 | pathogenic | -1.695 | Destabilizing | 0.996 | D | 0.845 | deleterious | None | None | None | None | N |
| S/E | 0.9933 | likely_pathogenic | 0.9954 | pathogenic | -1.547 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| S/F | 0.9918 | likely_pathogenic | 0.9947 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| S/G | 0.3364 | likely_benign | 0.3706 | ambiguous | -1.164 | Destabilizing | 0.104 | N | 0.522 | neutral | D | 0.585228984 | None | None | N |
| S/H | 0.9909 | likely_pathogenic | 0.9933 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| S/I | 0.976 | likely_pathogenic | 0.984 | pathogenic | 0.069 | Stabilizing | 0.999 | D | 0.863 | deleterious | D | 0.746723718 | None | None | N |
| S/K | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.896 | Destabilizing | 0.996 | D | 0.846 | deleterious | None | None | None | None | N |
| S/L | 0.9126 | likely_pathogenic | 0.9427 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/M | 0.9595 | likely_pathogenic | 0.9704 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| S/N | 0.9532 | likely_pathogenic | 0.9667 | pathogenic | -1.366 | Destabilizing | 0.994 | D | 0.847 | deleterious | D | 0.781827249 | None | None | N |
| S/P | 0.9899 | likely_pathogenic | 0.9926 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| S/Q | 0.9912 | likely_pathogenic | 0.9929 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/R | 0.996 | likely_pathogenic | 0.9973 | pathogenic | -1.108 | Destabilizing | 0.999 | D | 0.821 | deleterious | D | 0.70646162 | None | None | N |
| S/T | 0.5957 | likely_pathogenic | 0.6353 | pathogenic | -1.039 | Destabilizing | 0.994 | D | 0.837 | deleterious | D | 0.658893107 | None | None | N |
| S/V | 0.9428 | likely_pathogenic | 0.9568 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| S/W | 0.9932 | likely_pathogenic | 0.9958 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| S/Y | 0.9897 | likely_pathogenic | 0.9938 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.883 | 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.