Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8510 | 25753;25754;25755 | chr2:178717206;178717205;178717204 | chr2:179581933;179581932;179581931 |
| N2AB | 8193 | 24802;24803;24804 | chr2:178717206;178717205;178717204 | chr2:179581933;179581932;179581931 |
| N2A | 7266 | 22021;22022;22023 | chr2:178717206;178717205;178717204 | chr2:179581933;179581932;179581931 |
| 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/A | None | None | 0.131 | D | 0.478 | 0.195 | 0.316788114976 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
| T/I | None | None | 0.066 | N | 0.259 | 0.119 | 0.325263233342 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/P | rs576038518  |
-0.154 | 0.961 | N | 0.571 | 0.408 | 0.516217604878 | 1000 genomes | 2.8754E-02 | None | None | None | None | N | None | 1.89E-02 | 3.89E-02 | None | None | 4.27E-02 | 4.77E-02 | None | None | None | 1E-03 | None |
| T/P | rs576038518 |
-0.154 | 0.961 | N | 0.571 | 0.408 | 0.516217604878 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.1083 | likely_benign | 0.1108 | benign | -0.631 | Destabilizing | 0.131 | N | 0.478 | neutral | D | 0.530307241 | None | None | N |
| T/C | 0.5953 | likely_pathogenic | 0.5969 | pathogenic | -0.49 | Destabilizing | 0.998 | D | 0.521 | neutral | None | None | None | None | N |
| T/D | 0.466 | ambiguous | 0.4484 | ambiguous | -1.46 | Destabilizing | 0.914 | D | 0.566 | neutral | None | None | None | None | N |
| T/E | 0.2937 | likely_benign | 0.288 | benign | -1.392 | Destabilizing | 0.833 | D | 0.547 | neutral | None | None | None | None | N |
| T/F | 0.2908 | likely_benign | 0.2842 | benign | -0.51 | Destabilizing | 0.985 | D | 0.581 | neutral | None | None | None | None | N |
| T/G | 0.4601 | ambiguous | 0.4613 | ambiguous | -0.958 | Destabilizing | 0.962 | D | 0.563 | neutral | None | None | None | None | N |
| T/H | 0.3049 | likely_benign | 0.3017 | benign | -1.398 | Destabilizing | 0.995 | D | 0.557 | neutral | None | None | None | None | N |
| T/I | 0.1476 | likely_benign | 0.1438 | benign | 0.175 | Stabilizing | 0.066 | N | 0.259 | neutral | N | 0.483188084 | None | None | N |
| T/K | 0.2499 | likely_benign | 0.2558 | benign | -0.899 | Destabilizing | 0.777 | D | 0.537 | neutral | None | None | None | None | N |
| T/L | 0.1308 | likely_benign | 0.1349 | benign | 0.175 | Stabilizing | 0.331 | N | 0.471 | neutral | None | None | None | None | N |
| T/M | 0.0908 | likely_benign | 0.0905 | benign | 0.468 | Stabilizing | 0.59 | D | 0.472 | neutral | None | None | None | None | N |
| T/N | 0.178 | likely_benign | 0.1741 | benign | -1.201 | Destabilizing | 0.798 | D | 0.546 | neutral | N | 0.489460696 | None | None | N |
| T/P | 0.7108 | likely_pathogenic | 0.74 | pathogenic | -0.06 | Destabilizing | 0.961 | D | 0.571 | neutral | N | 0.485265164 | None | None | N |
| T/Q | 0.2461 | likely_benign | 0.2475 | benign | -1.243 | Destabilizing | 0.92 | D | 0.567 | neutral | None | None | None | None | N |
| T/R | 0.1802 | likely_benign | 0.1895 | benign | -0.817 | Destabilizing | 0.119 | N | 0.339 | neutral | None | None | None | None | N |
| T/S | 0.1487 | likely_benign | 0.1472 | benign | -1.243 | Destabilizing | 0.268 | N | 0.504 | neutral | N | 0.469816142 | None | None | N |
| T/V | 0.126 | likely_benign | 0.1252 | benign | -0.06 | Destabilizing | 0.063 | N | 0.205 | neutral | None | None | None | None | N |
| T/W | 0.6401 | likely_pathogenic | 0.628 | pathogenic | -0.663 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | N |
| T/Y | 0.3295 | likely_benign | 0.3185 | benign | -0.341 | Destabilizing | 0.992 | D | 0.596 | 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.