Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15486 | 46681;46682;46683 | chr2:178619861;178619860;178619859 | chr2:179484588;179484587;179484586 |
| N2AB | 13845 | 41758;41759;41760 | chr2:178619861;178619860;178619859 | chr2:179484588;179484587;179484586 |
| N2A | 12918 | 38977;38978;38979 | chr2:178619861;178619860;178619859 | chr2:179484588;179484587;179484586 |
| N2B | 6421 | 19486;19487;19488 | chr2:178619861;178619860;178619859 | chr2:179484588;179484587;179484586 |
| Novex-1 | 6546 | 19861;19862;19863 | chr2:178619861;178619860;178619859 | chr2:179484588;179484587;179484586 |
| Novex-2 | 6613 | 20062;20063;20064 | chr2:178619861;178619860;178619859 | chr2:179484588;179484587;179484586 |
| 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 | rs1234009054  |
-0.52 | 1.0 | N | 0.889 | 0.545 | 0.714395630354 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1234009054 |
-0.52 | 1.0 | N | 0.889 | 0.545 | 0.714395630354 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1234009054 |
-0.52 | 1.0 | N | 0.889 | 0.545 | 0.714395630354 | gnomAD-4.0.0 | 1.97582E-05 | None | None | None | None | N | None | 7.24638E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs907482265 |
-2.04 | 1.0 | D | 0.842 | 0.64 | 0.584457892069 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 8.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs907482265 |
-2.04 | 1.0 | D | 0.842 | 0.64 | 0.584457892069 | gnomAD-4.0.0 | 2.74154E-06 | None | None | None | None | N | None | 0 | 6.75128E-05 | None | 0 | 0 | None | 0 | 0 | 9.00265E-07 | 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 | 0.6839 | likely_pathogenic | 0.6387 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.545090479 | None | None | N |
| P/C | 0.9546 | likely_pathogenic | 0.9502 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/E | 0.9966 | likely_pathogenic | 0.9955 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/F | 0.9919 | likely_pathogenic | 0.9896 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/G | 0.9862 | likely_pathogenic | 0.982 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/H | 0.9941 | likely_pathogenic | 0.9917 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/I | 0.8379 | likely_pathogenic | 0.7984 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/K | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/L | 0.5533 | ambiguous | 0.5047 | ambiguous | -0.065 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.456887078 | None | None | N |
| P/M | 0.9244 | likely_pathogenic | 0.9069 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.9893 | likely_pathogenic | 0.986 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.583102743 | None | None | N |
| P/R | 0.9922 | likely_pathogenic | 0.9902 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.583102743 | None | None | N |
| P/S | 0.9753 | likely_pathogenic | 0.9666 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.584352166 | None | None | N |
| P/T | 0.9304 | likely_pathogenic | 0.9006 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.583276057 | None | None | N |
| P/V | 0.7563 | likely_pathogenic | 0.7081 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/Y | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.886 | 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.