Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5623 | 17092;17093;17094 | chr2:178732102;178732101;178732100 | chr2:179596829;179596828;179596827 |
| N2AB | 5306 | 16141;16142;16143 | chr2:178732102;178732101;178732100 | chr2:179596829;179596828;179596827 |
| N2A | 4379 | 13360;13361;13362 | chr2:178732102;178732101;178732100 | chr2:179596829;179596828;179596827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.859 | 0.554 | 0.610312411291 | gnomAD-4.0.0 | 6.84853E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00203E-07 | 0 | 0 |
| G/V | rs768364912  |
0.066 | 1.0 | D | 0.839 | 0.619 | 0.812223674915 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.67056E-04 | None | 0 | None | 0 | 8.93E-06 | 1.66778E-04 |
| G/V | rs768364912 |
0.066 | 1.0 | D | 0.839 | 0.619 | 0.812223674915 | gnomAD-4.0.0 | 5.47882E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.56125E-05 | None | 0 | 0 | 3.60081E-06 | 0 | 1.65837E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6305 | likely_pathogenic | 0.5829 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.611980236 | None | None | I |
| G/C | 0.8738 | likely_pathogenic | 0.8297 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.638729173 | None | None | I |
| G/D | 0.7813 | likely_pathogenic | 0.717 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.604843852 | None | None | I |
| G/E | 0.8684 | likely_pathogenic | 0.804 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/F | 0.9615 | likely_pathogenic | 0.9416 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/H | 0.9354 | likely_pathogenic | 0.9031 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/I | 0.9534 | likely_pathogenic | 0.9285 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/K | 0.9279 | likely_pathogenic | 0.8832 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/L | 0.947 | likely_pathogenic | 0.9359 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9646 | likely_pathogenic | 0.9552 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/N | 0.8633 | likely_pathogenic | 0.8245 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/P | 0.9961 | likely_pathogenic | 0.9944 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.8904 | likely_pathogenic | 0.8465 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/R | 0.8378 | likely_pathogenic | 0.7673 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.616361004 | None | None | I |
| G/S | 0.4626 | ambiguous | 0.399 | ambiguous | -0.418 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.595355462 | None | None | I |
| G/T | 0.8423 | likely_pathogenic | 0.7905 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/V | 0.9025 | likely_pathogenic | 0.8605 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.654344926 | None | None | I |
| G/W | 0.9376 | likely_pathogenic | 0.9098 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9358 | likely_pathogenic | 0.9093 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
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.