Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7922 | 23989;23990;23991 | chr2:178719728;178719727;178719726 | chr2:179584455;179584454;179584453 |
| N2AB | 7605 | 23038;23039;23040 | chr2:178719728;178719727;178719726 | chr2:179584455;179584454;179584453 |
| N2A | 6678 | 20257;20258;20259 | chr2:178719728;178719727;178719726 | chr2:179584455;179584454;179584453 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1342595109  |
-0.389 | 1.0 | D | 0.765 | 0.823 | 0.922666358854 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1342595109 |
-0.389 | 1.0 | D | 0.765 | 0.823 | 0.922666358854 | gnomAD-4.0.0 | 2.05274E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 1.73491E-04 | 8.99528E-07 | 0 | 0 |
| W/R | rs1049106432 |
-1.593 | 1.0 | D | 0.849 | 0.939 | 0.940907279294 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| W/R | rs1049106432 |
-1.593 | 1.0 | D | 0.849 | 0.939 | 0.940907279294 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/R | rs1049106432 |
-1.593 | 1.0 | D | 0.849 | 0.939 | 0.940907279294 | gnomAD-4.0.0 | 6.84249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99528E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9891 | likely_pathogenic | 0.9904 | pathogenic | -2.833 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/C | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.72744274 | None | None | N |
| W/D | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.285 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/E | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -3.155 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| W/F | 0.6238 | likely_pathogenic | 0.6557 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/G | 0.966 | likely_pathogenic | 0.9691 | pathogenic | -3.073 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.727240936 | None | None | N |
| W/H | 0.9955 | likely_pathogenic | 0.996 | pathogenic | -2.472 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/I | 0.9331 | likely_pathogenic | 0.948 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/L | 0.8867 | likely_pathogenic | 0.9014 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.727240936 | None | None | N |
| W/M | 0.981 | likely_pathogenic | 0.9846 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/N | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -2.878 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/P | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.654 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.72744274 | None | None | N |
| W/S | 0.9898 | likely_pathogenic | 0.99 | pathogenic | -2.93 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.72744274 | None | None | N |
| W/T | 0.9917 | likely_pathogenic | 0.9926 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/V | 0.9559 | likely_pathogenic | 0.9617 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/Y | 0.8591 | likely_pathogenic | 0.8679 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.793 | 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.