Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5570 | 16933;16934;16935 | chr2:178732261;178732260;178732259 | chr2:179596988;179596987;179596986 |
| N2AB | 5253 | 15982;15983;15984 | chr2:178732261;178732260;178732259 | chr2:179596988;179596987;179596986 |
| N2A | 4326 | 13201;13202;13203 | chr2:178732261;178732260;178732259 | chr2:179596988;179596987;179596986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs535319438  |
-0.04 | 0.984 | N | 0.497 | 0.288 | 0.535726849619 | gnomAD-2.1.1 | 1.04682E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.79597E-04 | None | 3.26883E-04 | None | 0 | 0 | 3.32116E-04 |
| T/I | rs535319438 |
-0.04 | 0.984 | N | 0.497 | 0.288 | 0.535726849619 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.77812E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs535319438 |
-0.04 | 0.984 | N | 0.497 | 0.288 | 0.535726849619 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| T/I | rs535319438 |
-0.04 | 0.984 | N | 0.497 | 0.288 | 0.535726849619 | gnomAD-4.0.0 | 3.47017E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.90327E-04 | None | 0 | 0 | 0 | 2.7455E-04 | 1.44055E-04 |
| T/N | rs535319438 |
-0.416 | 0.896 | N | 0.491 | 0.17 | 0.387850303812 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs535319438 |
-0.416 | 0.896 | N | 0.491 | 0.17 | 0.387850303812 | gnomAD-4.0.0 | 2.05268E-06 | None | None | None | None | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 8.99481E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1693 | likely_benign | 0.209 | benign | -0.263 | Destabilizing | 0.64 | D | 0.45 | neutral | N | 0.511470764 | None | None | N |
| T/C | 0.7276 | likely_pathogenic | 0.7882 | pathogenic | -0.273 | Destabilizing | 0.999 | D | 0.554 | neutral | None | None | None | None | N |
| T/D | 0.5378 | ambiguous | 0.648 | pathogenic | 0.043 | Stabilizing | 0.919 | D | 0.538 | neutral | None | None | None | None | N |
| T/E | 0.5083 | ambiguous | 0.6374 | pathogenic | -0.028 | Destabilizing | 0.919 | D | 0.536 | neutral | None | None | None | None | N |
| T/F | 0.3377 | likely_benign | 0.4603 | ambiguous | -0.719 | Destabilizing | 0.996 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/G | 0.4954 | ambiguous | 0.5626 | ambiguous | -0.397 | Destabilizing | 0.851 | D | 0.615 | neutral | None | None | None | None | N |
| T/H | 0.3997 | ambiguous | 0.4936 | ambiguous | -0.619 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/I | 0.3679 | ambiguous | 0.5095 | ambiguous | -0.027 | Destabilizing | 0.984 | D | 0.497 | neutral | N | 0.496965458 | None | None | N |
| T/K | 0.3941 | ambiguous | 0.5342 | ambiguous | -0.423 | Destabilizing | 0.919 | D | 0.539 | neutral | None | None | None | None | N |
| T/L | 0.1949 | likely_benign | 0.2614 | benign | -0.027 | Destabilizing | 0.919 | D | 0.515 | neutral | None | None | None | None | N |
| T/M | 0.1268 | likely_benign | 0.1632 | benign | -0.014 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| T/N | 0.1807 | likely_benign | 0.2387 | benign | -0.163 | Destabilizing | 0.896 | D | 0.491 | neutral | N | 0.465679759 | None | None | N |
| T/P | 0.4988 | ambiguous | 0.5533 | ambiguous | -0.077 | Destabilizing | 0.984 | D | 0.493 | neutral | N | 0.500406904 | None | None | N |
| T/Q | 0.3821 | ambiguous | 0.492 | ambiguous | -0.37 | Destabilizing | 0.988 | D | 0.526 | neutral | None | None | None | None | N |
| T/R | 0.3521 | ambiguous | 0.4781 | ambiguous | -0.123 | Destabilizing | 0.976 | D | 0.515 | neutral | None | None | None | None | N |
| T/S | 0.1149 | likely_benign | 0.1258 | benign | -0.344 | Destabilizing | 0.046 | N | 0.223 | neutral | N | 0.405978094 | None | None | N |
| T/V | 0.3093 | likely_benign | 0.4238 | ambiguous | -0.077 | Destabilizing | 0.919 | D | 0.45 | neutral | None | None | None | None | N |
| T/W | 0.723 | likely_pathogenic | 0.8051 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| T/Y | 0.3862 | ambiguous | 0.4901 | ambiguous | -0.475 | Destabilizing | 0.996 | D | 0.693 | prob.neutral | 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.