Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17152 | 51679;51680;51681 | chr2:178609969;178609968;178609967 | chr2:179474696;179474695;179474694 |
| N2AB | 15511 | 46756;46757;46758 | chr2:178609969;178609968;178609967 | chr2:179474696;179474695;179474694 |
| N2A | 14584 | 43975;43976;43977 | chr2:178609969;178609968;178609967 | chr2:179474696;179474695;179474694 |
| N2B | 8087 | 24484;24485;24486 | chr2:178609969;178609968;178609967 | chr2:179474696;179474695;179474694 |
| Novex-1 | 8212 | 24859;24860;24861 | chr2:178609969;178609968;178609967 | chr2:179474696;179474695;179474694 |
| Novex-2 | 8279 | 25060;25061;25062 | chr2:178609969;178609968;178609967 | chr2:179474696;179474695;179474694 |
| 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/A | None | None | 0.645 | N | 0.582 | 0.179 | 0.318540980066 | gnomAD-4.0.0 | 1.59519E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86421E-06 | 0 | 0 |
| V/I | rs1553692607  |
None | 0.006 | N | 0.277 | 0.05 | 0.146414634003 | gnomAD-4.0.0 | 2.05508E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05382E-05 | None | 0 | 0 | 9.001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2711 | likely_benign | 0.2024 | benign | -1.441 | Destabilizing | 0.645 | D | 0.582 | neutral | N | 0.459662572 | None | None | N |
| V/C | 0.7977 | likely_pathogenic | 0.7339 | pathogenic | -0.808 | Destabilizing | 0.995 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/D | 0.7453 | likely_pathogenic | 0.613 | pathogenic | -1.331 | Destabilizing | 0.945 | D | 0.812 | deleterious | None | None | None | None | N |
| V/E | 0.4895 | ambiguous | 0.3863 | ambiguous | -1.348 | Destabilizing | 0.928 | D | 0.799 | deleterious | N | 0.406212089 | None | None | N |
| V/F | 0.3251 | likely_benign | 0.2617 | benign | -1.129 | Destabilizing | 0.894 | D | 0.791 | deleterious | None | None | None | None | N |
| V/G | 0.3907 | ambiguous | 0.3155 | benign | -1.739 | Destabilizing | 0.928 | D | 0.788 | deleterious | N | 0.436977713 | None | None | N |
| V/H | 0.7814 | likely_pathogenic | 0.695 | pathogenic | -1.334 | Destabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | N |
| V/I | 0.077 | likely_benign | 0.0726 | benign | -0.726 | Destabilizing | 0.006 | N | 0.277 | neutral | N | 0.471477076 | None | None | N |
| V/K | 0.5423 | ambiguous | 0.4501 | ambiguous | -1.3 | Destabilizing | 0.945 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.2133 | likely_benign | 0.1869 | benign | -0.726 | Destabilizing | 0.006 | N | 0.257 | neutral | N | 0.429129021 | None | None | N |
| V/M | 0.1542 | likely_benign | 0.1404 | benign | -0.487 | Destabilizing | 0.894 | D | 0.665 | neutral | None | None | None | None | N |
| V/N | 0.4929 | ambiguous | 0.3798 | ambiguous | -0.992 | Destabilizing | 0.981 | D | 0.805 | deleterious | None | None | None | None | N |
| V/P | 0.9022 | likely_pathogenic | 0.8396 | pathogenic | -0.93 | Destabilizing | 0.981 | D | 0.808 | deleterious | None | None | None | None | N |
| V/Q | 0.448 | ambiguous | 0.3724 | ambiguous | -1.182 | Destabilizing | 0.981 | D | 0.797 | deleterious | None | None | None | None | N |
| V/R | 0.4818 | ambiguous | 0.3787 | ambiguous | -0.739 | Destabilizing | 0.945 | D | 0.805 | deleterious | None | None | None | None | N |
| V/S | 0.355 | ambiguous | 0.2723 | benign | -1.449 | Destabilizing | 0.945 | D | 0.789 | deleterious | None | None | None | None | N |
| V/T | 0.1987 | likely_benign | 0.153 | benign | -1.367 | Destabilizing | 0.707 | D | 0.616 | neutral | None | None | None | None | N |
| V/W | 0.9222 | likely_pathogenic | 0.8736 | pathogenic | -1.321 | Destabilizing | 0.995 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/Y | 0.7537 | likely_pathogenic | 0.6615 | pathogenic | -1.06 | Destabilizing | 0.945 | D | 0.787 | 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.