Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9906 | 29941;29942;29943 | chr2:178704756;178704755;178704754 | chr2:179569483;179569482;179569481 |
| N2AB | 9589 | 28990;28991;28992 | chr2:178704756;178704755;178704754 | chr2:179569483;179569482;179569481 |
| N2A | 8662 | 26209;26210;26211 | chr2:178704756;178704755;178704754 | chr2:179569483;179569482;179569481 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs367712022  |
-2.365 | 0.989 | None | 0.679 | 0.4 | None | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/T | rs367712022 |
-2.365 | 0.989 | None | 0.679 | 0.4 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs367712022 |
-2.365 | 0.989 | None | 0.679 | 0.4 | None | gnomAD-4.0.0 | 3.10495E-06 | None | None | None | None | N | None | 1.3364E-05 | 1.6709E-05 | None | 0 | 0 | None | 0 | 0 | 2.54355E-06 | 0 | 0 |
| I/V | rs759931516 |
-1.308 | 0.333 | None | 0.191 | 0.175 | 0.374076547971 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/V | rs759931516 |
-1.308 | 0.333 | None | 0.191 | 0.175 | 0.374076547971 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8195 | likely_pathogenic | 0.7755 | pathogenic | -2.02 | Highly Destabilizing | 0.992 | D | 0.569 | neutral | None | None | None | None | N |
| I/C | 0.9791 | likely_pathogenic | 0.9807 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| I/D | 0.9971 | likely_pathogenic | 0.9934 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| I/E | 0.9895 | likely_pathogenic | 0.9797 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| I/F | 0.8199 | likely_pathogenic | 0.7488 | pathogenic | -1.15 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| I/G | 0.9878 | likely_pathogenic | 0.9807 | pathogenic | -2.511 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| I/H | 0.9948 | likely_pathogenic | 0.9899 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| I/K | 0.9812 | likely_pathogenic | 0.9624 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| I/L | 0.36 | ambiguous | 0.3395 | benign | -0.653 | Destabilizing | 0.889 | D | 0.389 | neutral | None | None | None | None | N |
| I/M | 0.3375 | likely_benign | 0.2982 | benign | -0.728 | Destabilizing | 0.998 | D | 0.663 | neutral | None | None | None | None | N |
| I/N | 0.9691 | likely_pathogenic | 0.9482 | pathogenic | -1.464 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| I/P | 0.9717 | likely_pathogenic | 0.9579 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| I/Q | 0.9885 | likely_pathogenic | 0.9781 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/R | 0.9756 | likely_pathogenic | 0.9501 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| I/S | 0.9324 | likely_pathogenic | 0.8947 | pathogenic | -2.268 | Highly Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/T | 0.6663 | likely_pathogenic | 0.5842 | pathogenic | -1.952 | Destabilizing | 0.989 | D | 0.679 | prob.neutral | None | None | None | None | N |
| I/V | 0.1622 | likely_benign | 0.1747 | benign | -1.083 | Destabilizing | 0.333 | N | 0.191 | neutral | None | None | None | None | N |
| I/W | 0.9945 | likely_pathogenic | 0.987 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| I/Y | 0.987 | likely_pathogenic | 0.9754 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.747 | 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.