Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22713 | 68362;68363;68364 | chr2:178578893;178578892;178578891 | chr2:179443620;179443619;179443618 |
| N2AB | 21072 | 63439;63440;63441 | chr2:178578893;178578892;178578891 | chr2:179443620;179443619;179443618 |
| N2A | 20145 | 60658;60659;60660 | chr2:178578893;178578892;178578891 | chr2:179443620;179443619;179443618 |
| N2B | 13648 | 41167;41168;41169 | chr2:178578893;178578892;178578891 | chr2:179443620;179443619;179443618 |
| Novex-1 | 13773 | 41542;41543;41544 | chr2:178578893;178578892;178578891 | chr2:179443620;179443619;179443618 |
| Novex-2 | 13840 | 41743;41744;41745 | chr2:178578893;178578892;178578891 | chr2:179443620;179443619;179443618 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs768845661  |
-1.129 | 0.999 | D | 0.471 | 0.304 | 0.298403945805 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs768845661 |
-1.129 | 0.999 | D | 0.471 | 0.304 | 0.298403945805 | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77747E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs895744220 |
None | 0.999 | N | 0.585 | 0.354 | 0.317958651998 | gnomAD-4.0.0 | 2.73762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59876E-06 | 0 | 0 |
| E/Q | rs895744220 |
-0.878 | 1.0 | N | 0.611 | 0.334 | 0.297031009988 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.5445E-04 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs895744220 |
-0.878 | 1.0 | N | 0.611 | 0.334 | 0.297031009988 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs895744220 |
-0.878 | 1.0 | N | 0.611 | 0.334 | 0.297031009988 | gnomAD-4.0.0 | 1.85966E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.69762E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.304 | likely_benign | 0.2061 | benign | -1.116 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | N | 0.468459177 | None | None | N |
| E/C | 0.9186 | likely_pathogenic | 0.8725 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/D | 0.4371 | ambiguous | 0.325 | benign | -0.863 | Destabilizing | 0.999 | D | 0.471 | neutral | D | 0.525658277 | None | None | N |
| E/F | 0.9348 | likely_pathogenic | 0.868 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/G | 0.5211 | ambiguous | 0.3646 | ambiguous | -1.463 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.526525069 | None | None | N |
| E/H | 0.8225 | likely_pathogenic | 0.7019 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| E/I | 0.546 | ambiguous | 0.4133 | ambiguous | -0.163 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| E/K | 0.5388 | ambiguous | 0.3421 | ambiguous | -0.403 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.503608137 | None | None | N |
| E/L | 0.6473 | likely_pathogenic | 0.4868 | ambiguous | -0.163 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| E/M | 0.6539 | likely_pathogenic | 0.5067 | ambiguous | 0.303 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/N | 0.6035 | likely_pathogenic | 0.4464 | ambiguous | -0.936 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/P | 0.6685 | likely_pathogenic | 0.6152 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/Q | 0.2752 | likely_benign | 0.1906 | benign | -0.827 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.493796575 | None | None | N |
| E/R | 0.6622 | likely_pathogenic | 0.4876 | ambiguous | -0.138 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/S | 0.4683 | ambiguous | 0.3366 | benign | -1.26 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| E/T | 0.4077 | ambiguous | 0.2925 | benign | -0.958 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/V | 0.3409 | ambiguous | 0.2403 | benign | -0.461 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.469473135 | None | None | N |
| E/W | 0.9807 | likely_pathogenic | 0.9595 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/Y | 0.899 | likely_pathogenic | 0.8118 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.79 | 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.