Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14392 | 43399;43400;43401 | chr2:178632957;178632956;178632955 | chr2:179497684;179497683;179497682 |
| N2AB | 12751 | 38476;38477;38478 | chr2:178632957;178632956;178632955 | chr2:179497684;179497683;179497682 |
| N2A | 11824 | 35695;35696;35697 | chr2:178632957;178632956;178632955 | chr2:179497684;179497683;179497682 |
| N2B | 5327 | 16204;16205;16206 | chr2:178632957;178632956;178632955 | chr2:179497684;179497683;179497682 |
| Novex-1 | 5452 | 16579;16580;16581 | chr2:178632957;178632956;178632955 | chr2:179497684;179497683;179497682 |
| Novex-2 | 5519 | 16780;16781;16782 | chr2:178632957;178632956;178632955 | chr2:179497684;179497683;179497682 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs760934964  |
-0.547 | 0.999 | D | 0.905 | 0.52 | 0.483891081108 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs760934964 |
-0.547 | 0.999 | D | 0.905 | 0.52 | 0.483891081108 | gnomAD-4.0.0 | 3.18527E-06 | None | None | None | None | N | None | 0 | 4.57457E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs760934964 |
-1.771 | 0.982 | D | 0.561 | 0.414 | 0.326074293725 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 2.03087E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs760934964 |
-1.771 | 0.982 | D | 0.561 | 0.414 | 0.326074293725 | gnomAD-4.0.0 | 1.11484E-05 | None | None | None | None | N | None | 0 | 1.6011E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9162 | likely_pathogenic | 0.8593 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/D | 0.9729 | likely_pathogenic | 0.9596 | pathogenic | -1.923 | Destabilizing | 0.998 | D | 0.923 | deleterious | D | 0.635096941 | None | None | N |
| A/E | 0.9718 | likely_pathogenic | 0.9662 | pathogenic | -1.83 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| A/F | 0.9346 | likely_pathogenic | 0.9274 | pathogenic | -0.957 | Destabilizing | 0.999 | D | 0.91 | deleterious | None | None | None | None | N |
| A/G | 0.3317 | likely_benign | 0.2827 | benign | -1.538 | Destabilizing | 0.149 | N | 0.295 | neutral | D | 0.554623005 | None | None | N |
| A/H | 0.9836 | likely_pathogenic | 0.9776 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| A/I | 0.9107 | likely_pathogenic | 0.8992 | pathogenic | -0.119 | Destabilizing | 0.999 | D | 0.904 | deleterious | None | None | None | None | N |
| A/K | 0.9895 | likely_pathogenic | 0.9885 | pathogenic | -1.388 | Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | N |
| A/L | 0.7851 | likely_pathogenic | 0.7801 | pathogenic | -0.119 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| A/M | 0.8802 | likely_pathogenic | 0.8644 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/N | 0.9619 | likely_pathogenic | 0.9458 | pathogenic | -1.306 | Destabilizing | 0.998 | D | 0.913 | deleterious | None | None | None | None | N |
| A/P | 0.9834 | likely_pathogenic | 0.9797 | pathogenic | -0.414 | Destabilizing | 0.999 | D | 0.905 | deleterious | D | 0.634602469 | None | None | N |
| A/Q | 0.9737 | likely_pathogenic | 0.9687 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| A/R | 0.9727 | likely_pathogenic | 0.9705 | pathogenic | -1.254 | Destabilizing | 0.999 | D | 0.907 | deleterious | None | None | None | None | N |
| A/S | 0.4175 | ambiguous | 0.323 | benign | -1.7 | Destabilizing | 0.982 | D | 0.561 | neutral | D | 0.541908807 | None | None | N |
| A/T | 0.6487 | likely_pathogenic | 0.5368 | ambiguous | -1.495 | Destabilizing | 0.998 | D | 0.701 | prob.delet. | N | 0.459701988 | None | None | N |
| A/V | 0.6789 | likely_pathogenic | 0.6384 | pathogenic | -0.414 | Destabilizing | 0.997 | D | 0.662 | prob.neutral | N | 0.439096062 | None | None | N |
| A/W | 0.9928 | likely_pathogenic | 0.9915 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| A/Y | 0.9721 | likely_pathogenic | 0.965 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.91 | 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.