Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18049 | 54370;54371;54372 | chr2:178605032;178605031;178605030 | chr2:179469759;179469758;179469757 |
| N2AB | 16408 | 49447;49448;49449 | chr2:178605032;178605031;178605030 | chr2:179469759;179469758;179469757 |
| N2A | 15481 | 46666;46667;46668 | chr2:178605032;178605031;178605030 | chr2:179469759;179469758;179469757 |
| N2B | 8984 | 27175;27176;27177 | chr2:178605032;178605031;178605030 | chr2:179469759;179469758;179469757 |
| Novex-1 | 9109 | 27550;27551;27552 | chr2:178605032;178605031;178605030 | chr2:179469759;179469758;179469757 |
| Novex-2 | 9176 | 27751;27752;27753 | chr2:178605032;178605031;178605030 | chr2:179469759;179469758;179469757 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs562393563  |
-0.862 | 0.999 | N | 0.568 | 0.644 | 0.252681307341 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 3.33E-05 | None | 0 | 9E-06 | 0 |
| N/S | rs562393563 |
-0.862 | 0.999 | N | 0.568 | 0.644 | 0.252681307341 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94553E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs562393563 |
-0.862 | 0.999 | N | 0.568 | 0.644 | 0.252681307341 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| N/S | rs562393563 |
-0.862 | 0.999 | N | 0.568 | 0.644 | 0.252681307341 | gnomAD-4.0.0 | 8.70897E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23684E-05 | None | 0 | 0 | 8.50428E-06 | 3.31543E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9951 | likely_pathogenic | 0.996 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/C | 0.9262 | likely_pathogenic | 0.9394 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| N/D | 0.9935 | likely_pathogenic | 0.9928 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.537775551 | None | None | N |
| N/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.749 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| N/F | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/G | 0.9865 | likely_pathogenic | 0.9885 | pathogenic | -0.986 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| N/H | 0.9796 | likely_pathogenic | 0.9803 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.539042999 | None | None | N |
| N/I | 0.9953 | likely_pathogenic | 0.9953 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.527940183 | None | None | N |
| N/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.53853602 | None | None | N |
| N/L | 0.9826 | likely_pathogenic | 0.9827 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| N/M | 0.9946 | likely_pathogenic | 0.9948 | pathogenic | 0.482 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/P | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| N/Q | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/R | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/S | 0.734 | likely_pathogenic | 0.7715 | pathogenic | -0.609 | Destabilizing | 0.999 | D | 0.568 | neutral | N | 0.492323876 | None | None | N |
| N/T | 0.9528 | likely_pathogenic | 0.9583 | pathogenic | -0.435 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | D | 0.526672735 | None | None | N |
| N/V | 0.991 | likely_pathogenic | 0.9918 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| N/Y | 0.995 | likely_pathogenic | 0.9948 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.539042999 | 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.