Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16920 | 50983;50984;50985 | chr2:178611471;178611470;178611469 | chr2:179476198;179476197;179476196 |
| N2AB | 15279 | 46060;46061;46062 | chr2:178611471;178611470;178611469 | chr2:179476198;179476197;179476196 |
| N2A | 14352 | 43279;43280;43281 | chr2:178611471;178611470;178611469 | chr2:179476198;179476197;179476196 |
| N2B | 7855 | 23788;23789;23790 | chr2:178611471;178611470;178611469 | chr2:179476198;179476197;179476196 |
| Novex-1 | 7980 | 24163;24164;24165 | chr2:178611471;178611470;178611469 | chr2:179476198;179476197;179476196 |
| Novex-2 | 8047 | 24364;24365;24366 | chr2:178611471;178611470;178611469 | chr2:179476198;179476197;179476196 |
| 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/A | rs377289817  |
-1.099 | 1.0 | D | 0.727 | 0.447 | None | gnomAD-2.1.1 | 2.44079E-04 | None | None | None | None | N | None | 2.40225E-03 | 2.83302E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs377289817 |
-1.099 | 1.0 | D | 0.727 | 0.447 | None | gnomAD-3.1.2 | 5.85711E-04 | None | None | None | None | N | None | 2.02791E-03 | 1.96773E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56023E-04 |
| P/A | rs377289817 |
-1.099 | 1.0 | D | 0.727 | 0.447 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/A | rs377289817 |
-1.099 | 1.0 | D | 0.727 | 0.447 | None | gnomAD-4.0.0 | 1.00438E-04 | None | None | None | None | N | None | 1.84098E-03 | 2.83532E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.12126E-04 |
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 | 0.1096 | likely_benign | 0.1589 | benign | -1.156 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.562476355 | None | None | N |
| P/C | 0.7867 | likely_pathogenic | 0.8943 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/D | 0.7978 | likely_pathogenic | 0.8873 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/E | 0.53 | ambiguous | 0.6704 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/F | 0.8273 | likely_pathogenic | 0.9146 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/G | 0.5267 | ambiguous | 0.7351 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| P/H | 0.6017 | likely_pathogenic | 0.6953 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.65219449 | None | None | N |
| P/I | 0.6056 | likely_pathogenic | 0.7476 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/K | 0.7321 | likely_pathogenic | 0.8184 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/L | 0.3198 | likely_benign | 0.383 | ambiguous | -0.644 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.641196412 | None | None | N |
| P/M | 0.5975 | likely_pathogenic | 0.7508 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/N | 0.7156 | likely_pathogenic | 0.8516 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| P/Q | 0.4166 | ambiguous | 0.5309 | ambiguous | -1.021 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| P/R | 0.577 | likely_pathogenic | 0.6388 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.651173391 | None | None | N |
| P/S | 0.2753 | likely_benign | 0.4056 | ambiguous | -1.161 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.589850048 | None | None | N |
| P/T | 0.2454 | likely_benign | 0.37 | ambiguous | -1.13 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.5423755 | None | None | N |
| P/V | 0.4222 | ambiguous | 0.5875 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/W | 0.9122 | likely_pathogenic | 0.9548 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/Y | 0.8269 | likely_pathogenic | 0.9091 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | 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.