Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26149 | 78670;78671;78672 | chr2:178567687;178567686;178567685 | chr2:179432414;179432413;179432412 |
| N2AB | 24508 | 73747;73748;73749 | chr2:178567687;178567686;178567685 | chr2:179432414;179432413;179432412 |
| N2A | 23581 | 70966;70967;70968 | chr2:178567687;178567686;178567685 | chr2:179432414;179432413;179432412 |
| N2B | 17084 | 51475;51476;51477 | chr2:178567687;178567686;178567685 | chr2:179432414;179432413;179432412 |
| Novex-1 | 17209 | 51850;51851;51852 | chr2:178567687;178567686;178567685 | chr2:179432414;179432413;179432412 |
| Novex-2 | 17276 | 52051;52052;52053 | chr2:178567687;178567686;178567685 | chr2:179432414;179432413;179432412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | rs191263181  |
-0.779 | 0.822 | N | 0.47 | 0.376 | 0.21737058555 | gnomAD-2.1.1 | 8.61E-05 | None | None | None | None | N | None | 7.85838E-04 | 1.13572E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.41403E-04 |
| T/S | rs191263181 |
-0.779 | 0.822 | N | 0.47 | 0.376 | 0.21737058555 | gnomAD-3.1.2 | 2.16945E-04 | None | None | None | None | N | None | 7.72275E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| T/S | rs191263181 |
-0.779 | 0.822 | N | 0.47 | 0.376 | 0.21737058555 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/S | rs191263181 |
-0.779 | 0.822 | N | 0.47 | 0.376 | 0.21737058555 | gnomAD-4.0.0 | 4.40428E-05 | None | None | None | None | N | None | 7.86814E-04 | 8.34307E-05 | None | 0 | 0 | None | 0 | 0 | 8.48456E-07 | 0 | 9.61477E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0951 | likely_benign | 0.101 | benign | -0.774 | Destabilizing | 0.656 | D | 0.495 | neutral | N | 0.492202653 | None | None | N |
| T/C | 0.3709 | ambiguous | 0.3879 | ambiguous | -0.494 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/D | 0.6096 | likely_pathogenic | 0.6055 | pathogenic | 0.197 | Stabilizing | 0.754 | D | 0.601 | neutral | None | None | None | None | N |
| T/E | 0.4107 | ambiguous | 0.4074 | ambiguous | 0.197 | Stabilizing | 0.043 | N | 0.294 | neutral | None | None | None | None | N |
| T/F | 0.4143 | ambiguous | 0.4196 | ambiguous | -0.888 | Destabilizing | 0.956 | D | 0.77 | deleterious | None | None | None | None | N |
| T/G | 0.414 | ambiguous | 0.4075 | ambiguous | -1.019 | Destabilizing | 0.978 | D | 0.666 | neutral | None | None | None | None | N |
| T/H | 0.3088 | likely_benign | 0.3135 | benign | -1.241 | Destabilizing | 0.994 | D | 0.762 | deleterious | None | None | None | None | N |
| T/I | 0.1574 | likely_benign | 0.1676 | benign | -0.217 | Destabilizing | 0.89 | D | 0.655 | neutral | N | 0.500254049 | None | None | N |
| T/K | 0.2289 | likely_benign | 0.226 | benign | -0.555 | Destabilizing | 0.754 | D | 0.599 | neutral | None | None | None | None | N |
| T/L | 0.1391 | likely_benign | 0.141 | benign | -0.217 | Destabilizing | 0.514 | D | 0.549 | neutral | None | None | None | None | N |
| T/M | 0.1019 | likely_benign | 0.1065 | benign | -0.059 | Destabilizing | 0.559 | D | 0.393 | neutral | None | None | None | None | N |
| T/N | 0.1971 | likely_benign | 0.1959 | benign | -0.499 | Destabilizing | 0.942 | D | 0.529 | neutral | N | 0.475566429 | None | None | N |
| T/P | 0.2609 | likely_benign | 0.2659 | benign | -0.37 | Destabilizing | 0.97 | D | 0.691 | prob.neutral | N | 0.499964561 | None | None | N |
| T/Q | 0.2568 | likely_benign | 0.26 | benign | -0.625 | Destabilizing | 0.915 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/R | 0.2072 | likely_benign | 0.2046 | benign | -0.365 | Destabilizing | 0.956 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/S | 0.1501 | likely_benign | 0.1503 | benign | -0.828 | Destabilizing | 0.822 | D | 0.47 | neutral | N | 0.499266545 | None | None | N |
| T/V | 0.1154 | likely_benign | 0.122 | benign | -0.37 | Destabilizing | 0.754 | D | 0.473 | neutral | None | None | None | None | N |
| T/W | 0.7657 | likely_pathogenic | 0.7711 | pathogenic | -0.815 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| T/Y | 0.4765 | ambiguous | 0.4847 | ambiguous | -0.574 | Destabilizing | 0.978 | D | 0.773 | 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.