Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15150 | 45673;45674;45675 | chr2:178621270;178621269;178621268 | chr2:179485997;179485996;179485995 |
| N2AB | 13509 | 40750;40751;40752 | chr2:178621270;178621269;178621268 | chr2:179485997;179485996;179485995 |
| N2A | 12582 | 37969;37970;37971 | chr2:178621270;178621269;178621268 | chr2:179485997;179485996;179485995 |
| N2B | 6085 | 18478;18479;18480 | chr2:178621270;178621269;178621268 | chr2:179485997;179485996;179485995 |
| Novex-1 | 6210 | 18853;18854;18855 | chr2:178621270;178621269;178621268 | chr2:179485997;179485996;179485995 |
| Novex-2 | 6277 | 19054;19055;19056 | chr2:178621270;178621269;178621268 | chr2:179485997;179485996;179485995 |
| 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 | rs1395618626  |
-0.439 | 0.997 | D | 0.595 | 0.399 | 0.638950937581 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 1.24244E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1395618626 |
-0.439 | 0.997 | D | 0.595 | 0.399 | 0.638950937581 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1395618626 |
-0.439 | 0.997 | D | 0.595 | 0.399 | 0.638950937581 | gnomAD-4.0.0 | 5.13448E-06 | None | None | None | None | N | None | 6.77805E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5157 | ambiguous | 0.4934 | ambiguous | -1.516 | Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.688915875 | None | None | N |
| V/C | 0.9297 | likely_pathogenic | 0.8876 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| V/D | 0.9753 | likely_pathogenic | 0.9634 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.791303146 | None | None | N |
| V/E | 0.9411 | likely_pathogenic | 0.9125 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/F | 0.6445 | likely_pathogenic | 0.5798 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.682544619 | None | None | N |
| V/G | 0.7692 | likely_pathogenic | 0.747 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.733756013 | None | None | N |
| V/H | 0.986 | likely_pathogenic | 0.9784 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/I | 0.1274 | likely_benign | 0.1287 | benign | -0.449 | Destabilizing | 0.997 | D | 0.595 | neutral | D | 0.529180122 | None | None | N |
| V/K | 0.9762 | likely_pathogenic | 0.9634 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.5636 | ambiguous | 0.5038 | ambiguous | -0.449 | Destabilizing | 0.997 | D | 0.636 | neutral | D | 0.548964493 | None | None | N |
| V/M | 0.524 | ambiguous | 0.5073 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/N | 0.9528 | likely_pathogenic | 0.9374 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/P | 0.9274 | likely_pathogenic | 0.9021 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| V/Q | 0.9483 | likely_pathogenic | 0.9272 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/R | 0.9636 | likely_pathogenic | 0.946 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/S | 0.7723 | likely_pathogenic | 0.7397 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/T | 0.6292 | likely_pathogenic | 0.6045 | pathogenic | -1.737 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| V/W | 0.9922 | likely_pathogenic | 0.9872 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/Y | 0.9671 | likely_pathogenic | 0.9487 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.779 | 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.