Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21777 | 65554;65555;65556 | chr2:178583853;178583852;178583851 | chr2:179448580;179448579;179448578 |
| N2AB | 20136 | 60631;60632;60633 | chr2:178583853;178583852;178583851 | chr2:179448580;179448579;179448578 |
| N2A | 19209 | 57850;57851;57852 | chr2:178583853;178583852;178583851 | chr2:179448580;179448579;179448578 |
| N2B | 12712 | 38359;38360;38361 | chr2:178583853;178583852;178583851 | chr2:179448580;179448579;179448578 |
| Novex-1 | 12837 | 38734;38735;38736 | chr2:178583853;178583852;178583851 | chr2:179448580;179448579;179448578 |
| Novex-2 | 12904 | 38935;38936;38937 | chr2:178583853;178583852;178583851 | chr2:179448580;179448579;179448578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs779897187  |
-0.732 | 0.497 | N | 0.485 | 0.07 | 0.566737540366 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.71409E-04 |
| I/M | rs779897187 |
-0.732 | 0.497 | N | 0.485 | 0.07 | 0.566737540366 | gnomAD-4.0.0 | 1.60484E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45586E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3083 | likely_benign | 0.2442 | benign | -2.099 | Highly Destabilizing | 0.072 | N | 0.502 | neutral | None | None | None | None | N |
| I/C | 0.5911 | likely_pathogenic | 0.5277 | ambiguous | -1.152 | Destabilizing | 0.909 | D | 0.613 | neutral | None | None | None | None | N |
| I/D | 0.795 | likely_pathogenic | 0.7453 | pathogenic | -1.965 | Destabilizing | 0.726 | D | 0.71 | prob.delet. | None | None | None | None | N |
| I/E | 0.5406 | ambiguous | 0.4943 | ambiguous | -1.829 | Destabilizing | 0.726 | D | 0.68 | prob.neutral | None | None | None | None | N |
| I/F | 0.1945 | likely_benign | 0.169 | benign | -1.231 | Destabilizing | 0.497 | N | 0.447 | neutral | N | 0.47786433 | None | None | N |
| I/G | 0.641 | likely_pathogenic | 0.5494 | ambiguous | -2.554 | Highly Destabilizing | 0.726 | D | 0.657 | neutral | None | None | None | None | N |
| I/H | 0.407 | ambiguous | 0.3648 | ambiguous | -1.877 | Destabilizing | 0.968 | D | 0.743 | deleterious | None | None | None | None | N |
| I/K | 0.2449 | likely_benign | 0.2146 | benign | -1.534 | Destabilizing | 0.726 | D | 0.685 | prob.neutral | None | None | None | None | N |
| I/L | 0.1128 | likely_benign | 0.0968 | benign | -0.836 | Destabilizing | 0.025 | N | 0.407 | neutral | N | 0.436593711 | None | None | N |
| I/M | 0.1171 | likely_benign | 0.098 | benign | -0.618 | Destabilizing | 0.497 | N | 0.485 | neutral | N | 0.444021116 | None | None | N |
| I/N | 0.3339 | likely_benign | 0.2872 | benign | -1.587 | Destabilizing | 0.859 | D | 0.726 | prob.delet. | N | 0.43293733 | None | None | N |
| I/P | 0.9653 | likely_pathogenic | 0.957 | pathogenic | -1.232 | Destabilizing | 0.89 | D | 0.71 | prob.delet. | None | None | None | None | N |
| I/Q | 0.2814 | likely_benign | 0.2539 | benign | -1.595 | Destabilizing | 0.89 | D | 0.734 | prob.delet. | None | None | None | None | N |
| I/R | 0.1773 | likely_benign | 0.1618 | benign | -1.084 | Destabilizing | 0.726 | D | 0.729 | prob.delet. | None | None | None | None | N |
| I/S | 0.2589 | likely_benign | 0.2162 | benign | -2.255 | Highly Destabilizing | 0.497 | N | 0.599 | neutral | N | 0.34044567 | None | None | N |
| I/T | 0.2011 | likely_benign | 0.1598 | benign | -1.996 | Destabilizing | 0.124 | N | 0.469 | neutral | N | 0.356033985 | None | None | N |
| I/V | 0.084 | likely_benign | 0.0707 | benign | -1.232 | Destabilizing | None | N | 0.159 | neutral | N | 0.362674742 | None | None | N |
| I/W | 0.7917 | likely_pathogenic | 0.764 | pathogenic | -1.533 | Destabilizing | 0.968 | D | 0.743 | deleterious | None | None | None | None | N |
| I/Y | 0.5042 | ambiguous | 0.4742 | ambiguous | -1.248 | Destabilizing | 0.726 | D | 0.597 | 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.