Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2842 | 8749;8750;8751 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
| N2AB | 2842 | 8749;8750;8751 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
| N2A | 2842 | 8749;8750;8751 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
| N2B | 2796 | 8611;8612;8613 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
| Novex-1 | 2796 | 8611;8612;8613 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
| Novex-2 | 2796 | 8611;8612;8613 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
| Novex-3 | 2842 | 8749;8750;8751 | chr2:178770177;178770176;178770175 | chr2:179634904;179634903;179634902 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs771546584  |
-1.414 | 0.963 | N | 0.625 | 0.527 | 0.830520815012 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 1.73481E-04 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| L/P | rs771546584 |
-1.414 | 0.963 | N | 0.625 | 0.527 | 0.830520815012 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| L/P | rs771546584 |
-1.414 | 0.963 | N | 0.625 | 0.527 | 0.830520815012 | gnomAD-4.0.0 | 8.67324E-06 | None | None | None | None | N | None | 0 | 1.4996E-04 | None | 0 | 0 | None | 0 | 0 | 8.47442E-07 | 4.39184E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.4778 | ambiguous | 0.416 | ambiguous | -1.942 | Destabilizing | 0.25 | N | 0.457 | neutral | None | None | None | None | N |
| L/C | 0.6439 | likely_pathogenic | 0.6333 | pathogenic | -1.121 | Destabilizing | 0.992 | D | 0.567 | neutral | None | None | None | None | N |
| L/D | 0.9361 | likely_pathogenic | 0.8924 | pathogenic | -1.423 | Destabilizing | 0.972 | D | 0.625 | neutral | None | None | None | None | N |
| L/E | 0.6956 | likely_pathogenic | 0.5897 | pathogenic | -1.355 | Destabilizing | 0.92 | D | 0.63 | neutral | None | None | None | None | N |
| L/F | 0.2046 | likely_benign | 0.1985 | benign | -1.227 | Destabilizing | 0.85 | D | 0.552 | neutral | None | None | None | None | N |
| L/G | 0.8232 | likely_pathogenic | 0.7727 | pathogenic | -2.34 | Highly Destabilizing | 0.92 | D | 0.618 | neutral | None | None | None | None | N |
| L/H | 0.4797 | ambiguous | 0.4026 | ambiguous | -1.573 | Destabilizing | 0.992 | D | 0.619 | neutral | None | None | None | None | N |
| L/I | 0.0925 | likely_benign | 0.0977 | benign | -0.88 | Destabilizing | 0.002 | N | 0.134 | neutral | None | None | None | None | N |
| L/K | 0.5716 | likely_pathogenic | 0.4586 | ambiguous | -1.455 | Destabilizing | 0.85 | D | 0.592 | neutral | None | None | None | None | N |
| L/M | 0.0907 | likely_benign | 0.0936 | benign | -0.653 | Destabilizing | 0.099 | N | 0.308 | neutral | N | 0.413001736 | None | None | N |
| L/N | 0.7391 | likely_pathogenic | 0.6686 | pathogenic | -1.332 | Destabilizing | 0.972 | D | 0.625 | neutral | None | None | None | None | N |
| L/P | 0.7512 | likely_pathogenic | 0.5576 | ambiguous | -1.205 | Destabilizing | 0.963 | D | 0.625 | neutral | N | 0.511905815 | None | None | N |
| L/Q | 0.3518 | ambiguous | 0.2867 | benign | -1.413 | Destabilizing | 0.896 | D | 0.606 | neutral | N | 0.51069449 | None | None | N |
| L/R | 0.4905 | ambiguous | 0.3775 | ambiguous | -0.927 | Destabilizing | 0.896 | D | 0.605 | neutral | N | 0.499454014 | None | None | N |
| L/S | 0.6126 | likely_pathogenic | 0.5232 | ambiguous | -1.993 | Destabilizing | 0.617 | D | 0.561 | neutral | None | None | None | None | N |
| L/T | 0.3306 | likely_benign | 0.2878 | benign | -1.799 | Destabilizing | 0.617 | D | 0.506 | neutral | None | None | None | None | N |
| L/V | 0.1027 | likely_benign | 0.1011 | benign | -1.205 | Destabilizing | 0.002 | N | 0.132 | neutral | N | 0.435994595 | None | None | N |
| L/W | 0.3723 | ambiguous | 0.3415 | ambiguous | -1.385 | Destabilizing | 0.992 | D | 0.619 | neutral | None | None | None | None | N |
| L/Y | 0.5256 | ambiguous | 0.504 | ambiguous | -1.159 | Destabilizing | 0.92 | D | 0.591 | 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.