Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26358 | 79297;79298;79299 | chr2:178567060;178567059;178567058 | chr2:179431787;179431786;179431785 |
| N2AB | 24717 | 74374;74375;74376 | chr2:178567060;178567059;178567058 | chr2:179431787;179431786;179431785 |
| N2A | 23790 | 71593;71594;71595 | chr2:178567060;178567059;178567058 | chr2:179431787;179431786;179431785 |
| N2B | 17293 | 52102;52103;52104 | chr2:178567060;178567059;178567058 | chr2:179431787;179431786;179431785 |
| Novex-1 | 17418 | 52477;52478;52479 | chr2:178567060;178567059;178567058 | chr2:179431787;179431786;179431785 |
| Novex-2 | 17485 | 52678;52679;52680 | chr2:178567060;178567059;178567058 | chr2:179431787;179431786;179431785 |
| 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 | rs774747865  |
-0.355 | None | N | 0.189 | 0.087 | None | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 2.48077E-04 | 1.41411E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs774747865 |
-0.355 | None | N | 0.189 | 0.087 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 3.13813E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs774747865 |
-0.355 | None | N | 0.189 | 0.087 | None | gnomAD-4.0.0 | 1.85938E-05 | None | None | None | None | N | None | 2.93835E-04 | 1.00063E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20318E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.364 | ambiguous | 0.4377 | ambiguous | -2.117 | Highly Destabilizing | 0.052 | N | 0.714 | prob.delet. | N | 0.449197649 | None | None | N |
| V/C | 0.6096 | likely_pathogenic | 0.6111 | pathogenic | -1.291 | Destabilizing | 0.935 | D | 0.782 | deleterious | None | None | None | None | N |
| V/D | 0.8265 | likely_pathogenic | 0.8683 | pathogenic | -2.86 | Highly Destabilizing | 0.484 | N | 0.835 | deleterious | N | 0.441098241 | None | None | N |
| V/E | 0.6373 | likely_pathogenic | 0.6846 | pathogenic | -2.595 | Highly Destabilizing | 0.555 | D | 0.801 | deleterious | None | None | None | None | N |
| V/F | 0.2215 | likely_benign | 0.2553 | benign | -1.157 | Destabilizing | 0.317 | N | 0.805 | deleterious | N | 0.441444957 | None | None | N |
| V/G | 0.5273 | ambiguous | 0.6204 | pathogenic | -2.642 | Highly Destabilizing | 0.484 | N | 0.802 | deleterious | N | 0.49487401 | None | None | N |
| V/H | 0.6849 | likely_pathogenic | 0.6966 | pathogenic | -2.517 | Highly Destabilizing | 0.935 | D | 0.818 | deleterious | None | None | None | None | N |
| V/I | 0.0524 | likely_benign | 0.0552 | benign | -0.608 | Destabilizing | None | N | 0.189 | neutral | N | 0.344494413 | None | None | N |
| V/K | 0.6153 | likely_pathogenic | 0.6411 | pathogenic | -1.505 | Destabilizing | 0.555 | D | 0.801 | deleterious | None | None | None | None | N |
| V/L | 0.1339 | likely_benign | 0.1251 | benign | -0.608 | Destabilizing | 0.004 | N | 0.506 | neutral | N | 0.385436959 | None | None | N |
| V/M | 0.1322 | likely_benign | 0.14 | benign | -0.755 | Destabilizing | 0.38 | N | 0.757 | deleterious | None | None | None | None | N |
| V/N | 0.4732 | ambiguous | 0.509 | ambiguous | -1.98 | Destabilizing | 0.791 | D | 0.835 | deleterious | None | None | None | None | N |
| V/P | 0.9812 | likely_pathogenic | 0.9834 | pathogenic | -1.092 | Destabilizing | 0.791 | D | 0.809 | deleterious | None | None | None | None | N |
| V/Q | 0.4761 | ambiguous | 0.5056 | ambiguous | -1.714 | Destabilizing | 0.791 | D | 0.809 | deleterious | None | None | None | None | N |
| V/R | 0.5204 | ambiguous | 0.5437 | ambiguous | -1.531 | Destabilizing | 0.555 | D | 0.831 | deleterious | None | None | None | None | N |
| V/S | 0.3626 | ambiguous | 0.4246 | ambiguous | -2.467 | Highly Destabilizing | 0.555 | D | 0.782 | deleterious | None | None | None | None | N |
| V/T | 0.2467 | likely_benign | 0.2971 | benign | -2.074 | Highly Destabilizing | 0.149 | N | 0.744 | deleterious | None | None | None | None | N |
| V/W | 0.867 | likely_pathogenic | 0.8736 | pathogenic | -1.737 | Destabilizing | 0.935 | D | 0.804 | deleterious | None | None | None | None | N |
| V/Y | 0.6142 | likely_pathogenic | 0.6281 | pathogenic | -1.391 | Destabilizing | 0.555 | D | 0.822 | 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.