Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26102 | 78529;78530;78531 | chr2:178567828;178567827;178567826 | chr2:179432555;179432554;179432553 |
| N2AB | 24461 | 73606;73607;73608 | chr2:178567828;178567827;178567826 | chr2:179432555;179432554;179432553 |
| N2A | 23534 | 70825;70826;70827 | chr2:178567828;178567827;178567826 | chr2:179432555;179432554;179432553 |
| N2B | 17037 | 51334;51335;51336 | chr2:178567828;178567827;178567826 | chr2:179432555;179432554;179432553 |
| Novex-1 | 17162 | 51709;51710;51711 | chr2:178567828;178567827;178567826 | chr2:179432555;179432554;179432553 |
| Novex-2 | 17229 | 51910;51911;51912 | chr2:178567828;178567827;178567826 | chr2:179432555;179432554;179432553 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs765201089  |
-1.27 | 1.0 | N | 0.675 | 0.414 | 0.486135451721 | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.26797E-04 | None | 0 | 0 | 0 |
| R/G | rs765201089 |
-1.27 | 1.0 | N | 0.675 | 0.414 | 0.486135451721 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| R/G | rs765201089 |
-1.27 | 1.0 | N | 0.675 | 0.414 | 0.486135451721 | gnomAD-4.0.0 | 1.11564E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.9762E-04 | 0 |
| R/I | None | None | 1.0 | N | 0.766 | 0.418 | 0.650902943696 | gnomAD-4.0.0 | 1.36865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99601E-07 | 0 | 1.65689E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8561 | likely_pathogenic | 0.8627 | pathogenic | -0.418 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| R/C | 0.5784 | likely_pathogenic | 0.6019 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/D | 0.9457 | likely_pathogenic | 0.9583 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/E | 0.8025 | likely_pathogenic | 0.8367 | pathogenic | -0.024 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| R/F | 0.9677 | likely_pathogenic | 0.9726 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| R/G | 0.6258 | likely_pathogenic | 0.6958 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.475381386 | None | None | N |
| R/H | 0.3663 | ambiguous | 0.4015 | ambiguous | -1.111 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/I | 0.8862 | likely_pathogenic | 0.9031 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.766 | deleterious | N | 0.497702246 | None | None | N |
| R/K | 0.2058 | likely_benign | 0.2082 | benign | -0.481 | Destabilizing | 0.997 | D | 0.478 | neutral | N | 0.429129021 | None | None | N |
| R/L | 0.8061 | likely_pathogenic | 0.8387 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| R/M | 0.8361 | likely_pathogenic | 0.8607 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/N | 0.9073 | likely_pathogenic | 0.924 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/P | 0.8982 | likely_pathogenic | 0.9066 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/Q | 0.2784 | likely_benign | 0.3018 | benign | -0.176 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/S | 0.9035 | likely_pathogenic | 0.9173 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.458427634 | None | None | N |
| R/T | 0.8667 | likely_pathogenic | 0.8899 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.512840909 | None | None | N |
| R/V | 0.9154 | likely_pathogenic | 0.9256 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/W | 0.6903 | likely_pathogenic | 0.7244 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/Y | 0.8743 | likely_pathogenic | 0.8844 | pathogenic | 0.045 | Stabilizing | 1.0 | D | 0.758 | 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.