Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8736 | 26431;26432;26433 | chr2:178714568;178714567;178714566 | chr2:179579295;179579294;179579293 |
| N2AB | 8419 | 25480;25481;25482 | chr2:178714568;178714567;178714566 | chr2:179579295;179579294;179579293 |
| N2A | 7492 | 22699;22700;22701 | chr2:178714568;178714567;178714566 | chr2:179579295;179579294;179579293 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1444367941  |
None | 1.0 | D | 0.879 | 0.68 | 0.920603051264 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs777166872 |
None | 1.0 | D | 0.893 | 0.732 | 0.723536994813 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| P/S | rs777166872 |
None | 1.0 | D | 0.893 | 0.732 | 0.723536994813 | gnomAD-4.0.0 | 1.2548E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.55835E-07 | 1.13253E-05 | 0 |
| P/T | rs777166872 |
-2.077 | 1.0 | D | 0.888 | 0.719 | 0.859303954879 | gnomAD-2.1.1 | 1.26E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.59E-05 | None | 0 | 9.13E-06 | 1.74216E-04 |
| P/T | rs777166872 |
-2.077 | 1.0 | D | 0.888 | 0.719 | 0.859303954879 | gnomAD-4.0.0 | 2.77438E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.08726E-07 | 2.39567E-05 | 1.6822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4374 | ambiguous | 0.6423 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.643943929 | None | None | N |
| P/C | 0.9284 | likely_pathogenic | 0.9773 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/D | 0.9961 | likely_pathogenic | 0.9985 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/E | 0.9815 | likely_pathogenic | 0.9935 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/F | 0.9856 | likely_pathogenic | 0.9968 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9404 | likely_pathogenic | 0.9748 | pathogenic | -2.324 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/H | 0.9687 | likely_pathogenic | 0.9915 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/I | 0.8317 | likely_pathogenic | 0.9436 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.9842 | likely_pathogenic | 0.9951 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/L | 0.5805 | likely_pathogenic | 0.8337 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.628096012 | None | None | N |
| P/M | 0.9276 | likely_pathogenic | 0.981 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/N | 0.988 | likely_pathogenic | 0.9963 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Q | 0.9427 | likely_pathogenic | 0.9831 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.644549342 | None | None | N |
| P/R | 0.9531 | likely_pathogenic | 0.9846 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.644549342 | None | None | N |
| P/S | 0.8325 | likely_pathogenic | 0.9428 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.644145733 | None | None | N |
| P/T | 0.7676 | likely_pathogenic | 0.924 | pathogenic | -1.946 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.644347538 | None | None | N |
| P/V | 0.6652 | likely_pathogenic | 0.8534 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/W | 0.9953 | likely_pathogenic | 0.9991 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.99 | likely_pathogenic | 0.9976 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.888 | 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.