Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28348 | 85267;85268;85269 | chr2:178561090;178561089;178561088 | chr2:179425817;179425816;179425815 |
| N2AB | 26707 | 80344;80345;80346 | chr2:178561090;178561089;178561088 | chr2:179425817;179425816;179425815 |
| N2A | 25780 | 77563;77564;77565 | chr2:178561090;178561089;178561088 | chr2:179425817;179425816;179425815 |
| N2B | 19283 | 58072;58073;58074 | chr2:178561090;178561089;178561088 | chr2:179425817;179425816;179425815 |
| Novex-1 | 19408 | 58447;58448;58449 | chr2:178561090;178561089;178561088 | chr2:179425817;179425816;179425815 |
| Novex-2 | 19475 | 58648;58649;58650 | chr2:178561090;178561089;178561088 | chr2:179425817;179425816;179425815 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs546413805  |
-1.282 | 0.994 | N | 0.574 | 0.206 | 0.501494698241 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs546413805 |
-1.282 | 0.994 | N | 0.574 | 0.206 | 0.501494698241 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| V/I | rs546413805 |
-1.282 | 0.994 | N | 0.574 | 0.206 | 0.501494698241 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| V/I | rs546413805 |
-1.282 | 0.994 | N | 0.574 | 0.206 | 0.501494698241 | gnomAD-4.0.0 | 3.09812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47587E-07 | 4.39155E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5006 | ambiguous | 0.5112 | ambiguous | -2.844 | Highly Destabilizing | 0.997 | D | 0.579 | neutral | N | 0.416525083 | None | None | N |
| V/C | 0.8377 | likely_pathogenic | 0.8479 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| V/D | 0.997 | likely_pathogenic | 0.9961 | pathogenic | -3.342 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | N | 0.492853628 | None | None | N |
| V/E | 0.9907 | likely_pathogenic | 0.988 | pathogenic | -3.076 | Highly Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| V/F | 0.9303 | likely_pathogenic | 0.9171 | pathogenic | -1.444 | Destabilizing | 0.999 | D | 0.817 | deleterious | N | 0.489051285 | None | None | N |
| V/G | 0.866 | likely_pathogenic | 0.8542 | pathogenic | -3.336 | Highly Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.492093159 | None | None | N |
| V/H | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | -2.779 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/I | 0.1316 | likely_benign | 0.12 | benign | -1.404 | Destabilizing | 0.994 | D | 0.574 | neutral | N | 0.507453732 | None | None | N |
| V/K | 0.9937 | likely_pathogenic | 0.9928 | pathogenic | -2.054 | Highly Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| V/L | 0.6817 | likely_pathogenic | 0.6392 | pathogenic | -1.404 | Destabilizing | 0.994 | D | 0.61 | neutral | N | 0.511379471 | None | None | N |
| V/M | 0.7502 | likely_pathogenic | 0.7003 | pathogenic | -1.768 | Destabilizing | 0.999 | D | 0.707 | prob.delet. | None | None | None | None | N |
| V/N | 0.9781 | likely_pathogenic | 0.9742 | pathogenic | -2.568 | Highly Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| V/P | 0.8349 | likely_pathogenic | 0.8527 | pathogenic | -1.87 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| V/Q | 0.9851 | likely_pathogenic | 0.9832 | pathogenic | -2.296 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| V/R | 0.9837 | likely_pathogenic | 0.9829 | pathogenic | -1.963 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| V/S | 0.8597 | likely_pathogenic | 0.8547 | pathogenic | -3.064 | Highly Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/T | 0.7375 | likely_pathogenic | 0.7253 | pathogenic | -2.674 | Highly Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| V/W | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Y | 0.9947 | likely_pathogenic | 0.9939 | pathogenic | -1.705 | Destabilizing | 0.999 | D | 0.818 | 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.