Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7187 | 21784;21785;21786 | chr2:178723541;178723540;178723539 | chr2:179588268;179588267;179588266 |
| N2AB | 6870 | 20833;20834;20835 | chr2:178723541;178723540;178723539 | chr2:179588268;179588267;179588266 |
| N2A | 5943 | 18052;18053;18054 | chr2:178723541;178723540;178723539 | chr2:179588268;179588267;179588266 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs769799292  |
None | 0.27 | N | 0.535 | 0.278 | 0.621605376903 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 5.66123E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs769799292 |
0.109 | 0.784 | N | 0.514 | 0.174 | 0.414281671643 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.54242E-04 | None | 0 | None | 0 | 0 | 0 |
| F/Y | rs769799292 |
0.109 | 0.784 | N | 0.514 | 0.174 | 0.414281671643 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs769799292 |
0.109 | 0.784 | N | 0.514 | 0.174 | 0.414281671643 | gnomAD-4.0.0 | 3.84516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.28226E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.2585 | likely_benign | 0.2452 | benign | -1.722 | Destabilizing | 0.3 | N | 0.446 | neutral | None | None | None | None | N |
| F/C | 0.1832 | likely_benign | 0.1953 | benign | -0.813 | Destabilizing | 0.975 | D | 0.579 | neutral | N | 0.496194667 | None | None | N |
| F/D | 0.572 | likely_pathogenic | 0.5315 | ambiguous | 0.002 | Stabilizing | 0.828 | D | 0.597 | neutral | None | None | None | None | N |
| F/E | 0.6033 | likely_pathogenic | 0.5655 | pathogenic | 0.055 | Stabilizing | 0.704 | D | 0.575 | neutral | None | None | None | None | N |
| F/G | 0.527 | ambiguous | 0.5021 | ambiguous | -2.021 | Highly Destabilizing | 0.003 | N | 0.449 | neutral | None | None | None | None | N |
| F/H | 0.4109 | ambiguous | 0.3776 | ambiguous | -0.374 | Destabilizing | 0.981 | D | 0.544 | neutral | None | None | None | None | N |
| F/I | 0.0984 | likely_benign | 0.102 | benign | -0.862 | Destabilizing | 0.27 | N | 0.465 | neutral | N | 0.433895414 | None | None | N |
| F/K | 0.5894 | likely_pathogenic | 0.5427 | ambiguous | -0.82 | Destabilizing | 0.031 | N | 0.449 | neutral | None | None | None | None | N |
| F/L | 0.4079 | ambiguous | 0.4044 | ambiguous | -0.862 | Destabilizing | 0.001 | N | 0.251 | neutral | N | 0.356954783 | None | None | N |
| F/M | 0.2591 | likely_benign | 0.2538 | benign | -0.668 | Destabilizing | 0.176 | N | 0.299 | neutral | None | None | None | None | N |
| F/N | 0.4606 | ambiguous | 0.4307 | ambiguous | -0.8 | Destabilizing | 0.828 | D | 0.591 | neutral | None | None | None | None | N |
| F/P | 0.8823 | likely_pathogenic | 0.8551 | pathogenic | -1.136 | Destabilizing | 0.936 | D | 0.62 | neutral | None | None | None | None | N |
| F/Q | 0.5077 | ambiguous | 0.4748 | ambiguous | -0.842 | Destabilizing | 0.704 | D | 0.621 | neutral | None | None | None | None | N |
| F/R | 0.4252 | ambiguous | 0.3892 | ambiguous | -0.252 | Destabilizing | 0.007 | N | 0.422 | neutral | None | None | None | None | N |
| F/S | 0.1909 | likely_benign | 0.1784 | benign | -1.6 | Destabilizing | 0.27 | N | 0.535 | neutral | N | 0.439935952 | None | None | N |
| F/T | 0.2199 | likely_benign | 0.1989 | benign | -1.453 | Destabilizing | 0.031 | N | 0.415 | neutral | None | None | None | None | N |
| F/V | 0.0991 | likely_benign | 0.1009 | benign | -1.136 | Destabilizing | 0.27 | N | 0.466 | neutral | N | 0.413037353 | None | None | N |
| F/W | 0.3358 | likely_benign | 0.3268 | benign | -0.188 | Destabilizing | 0.995 | D | 0.562 | neutral | None | None | None | None | N |
| F/Y | 0.1425 | likely_benign | 0.1403 | benign | -0.36 | Destabilizing | 0.784 | D | 0.514 | neutral | N | 0.441013388 | 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.