Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22701 | 68326;68327;68328 | chr2:178578929;178578928;178578927 | chr2:179443656;179443655;179443654 |
| N2AB | 21060 | 63403;63404;63405 | chr2:178578929;178578928;178578927 | chr2:179443656;179443655;179443654 |
| N2A | 20133 | 60622;60623;60624 | chr2:178578929;178578928;178578927 | chr2:179443656;179443655;179443654 |
| N2B | 13636 | 41131;41132;41133 | chr2:178578929;178578928;178578927 | chr2:179443656;179443655;179443654 |
| Novex-1 | 13761 | 41506;41507;41508 | chr2:178578929;178578928;178578927 | chr2:179443656;179443655;179443654 |
| Novex-2 | 13828 | 41707;41708;41709 | chr2:178578929;178578928;178578927 | chr2:179443656;179443655;179443654 |
| 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 | rs536702948  |
-0.74 | 0.996 | N | 0.455 | 0.448 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/A | rs536702948 |
-0.74 | 0.996 | N | 0.455 | 0.448 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs536702948 |
-0.74 | 0.996 | N | 0.455 | 0.448 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| T/A | rs536702948 |
-0.74 | 0.996 | N | 0.455 | 0.448 | None | gnomAD-4.0.0 | 9.91816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35654E-05 | 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 | 0.1443 | likely_benign | 0.1295 | benign | -0.579 | Destabilizing | 0.996 | D | 0.455 | neutral | N | 0.473623737 | None | None | N |
| T/C | 0.3878 | ambiguous | 0.3481 | ambiguous | -0.296 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/D | 0.5717 | likely_pathogenic | 0.6046 | pathogenic | -0.597 | Destabilizing | 0.996 | D | 0.651 | neutral | None | None | None | None | N |
| T/E | 0.4811 | ambiguous | 0.5237 | ambiguous | -0.431 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| T/F | 0.6237 | likely_pathogenic | 0.6479 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| T/G | 0.3514 | ambiguous | 0.3416 | ambiguous | -0.947 | Destabilizing | 0.994 | D | 0.601 | neutral | None | None | None | None | N |
| T/H | 0.4217 | ambiguous | 0.4454 | ambiguous | -1.059 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/I | 0.5424 | ambiguous | 0.4777 | ambiguous | 0.361 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.488347404 | None | None | N |
| T/K | 0.3759 | ambiguous | 0.4006 | ambiguous | -0.043 | Destabilizing | 0.998 | D | 0.658 | neutral | None | None | None | None | N |
| T/L | 0.1853 | likely_benign | 0.1578 | benign | 0.361 | Stabilizing | 0.997 | D | 0.567 | neutral | None | None | None | None | N |
| T/M | 0.1205 | likely_benign | 0.1106 | benign | 0.166 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| T/N | 0.1113 | likely_benign | 0.1074 | benign | -0.675 | Destabilizing | 0.79 | D | 0.351 | neutral | N | 0.487331962 | None | None | N |
| T/P | 0.135 | likely_benign | 0.1072 | benign | 0.08 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.512478336 | None | None | N |
| T/Q | 0.3064 | likely_benign | 0.3249 | benign | -0.464 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/R | 0.3106 | likely_benign | 0.3374 | benign | -0.215 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| T/S | 0.1836 | likely_benign | 0.1829 | benign | -0.906 | Destabilizing | 0.992 | D | 0.453 | neutral | N | 0.475167446 | None | None | N |
| T/V | 0.3488 | ambiguous | 0.3103 | benign | 0.08 | Stabilizing | 0.999 | D | 0.493 | neutral | None | None | None | None | N |
| T/W | 0.8505 | likely_pathogenic | 0.8828 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| T/Y | 0.4772 | ambiguous | 0.535 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.759 | 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.