Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29423 | 88492;88493;88494 | chr2:178556887;178556886;178556885 | chr2:179421614;179421613;179421612 |
| N2AB | 27782 | 83569;83570;83571 | chr2:178556887;178556886;178556885 | chr2:179421614;179421613;179421612 |
| N2A | 26855 | 80788;80789;80790 | chr2:178556887;178556886;178556885 | chr2:179421614;179421613;179421612 |
| N2B | 20358 | 61297;61298;61299 | chr2:178556887;178556886;178556885 | chr2:179421614;179421613;179421612 |
| Novex-1 | 20483 | 61672;61673;61674 | chr2:178556887;178556886;178556885 | chr2:179421614;179421613;179421612 |
| Novex-2 | 20550 | 61873;61874;61875 | chr2:178556887;178556886;178556885 | chr2:179421614;179421613;179421612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1701723735  |
None | 1.0 | D | 0.88 | 0.726 | 0.591671430083 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1701723735 |
None | 1.0 | D | 0.88 | 0.726 | 0.591671430083 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | I | None | 2.41208E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.999 | D | 0.884 | 0.593 | 0.473931330248 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3152 | likely_benign | 0.2145 | benign | -0.781 | Destabilizing | 0.997 | D | 0.846 | deleterious | D | 0.549242849 | None | None | I |
| S/C | 0.3979 | ambiguous | 0.2895 | benign | -0.593 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.554220053 | None | None | I |
| S/D | 0.9638 | likely_pathogenic | 0.9502 | pathogenic | -1.021 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | I |
| S/E | 0.9864 | likely_pathogenic | 0.9808 | pathogenic | -0.88 | Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | I |
| S/F | 0.9801 | likely_pathogenic | 0.9523 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.577261832 | None | None | I |
| S/G | 0.368 | ambiguous | 0.2867 | benign | -1.144 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | I |
| S/H | 0.9799 | likely_pathogenic | 0.9708 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| S/I | 0.9478 | likely_pathogenic | 0.8948 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| S/K | 0.9981 | likely_pathogenic | 0.9971 | pathogenic | -0.563 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | I |
| S/L | 0.7839 | likely_pathogenic | 0.662 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| S/M | 0.8943 | likely_pathogenic | 0.8338 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| S/N | 0.9035 | likely_pathogenic | 0.8684 | pathogenic | -0.939 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | I |
| S/P | 0.9713 | likely_pathogenic | 0.9446 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.577008342 | None | None | I |
| S/Q | 0.9851 | likely_pathogenic | 0.9786 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| S/R | 0.996 | likely_pathogenic | 0.9932 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| S/T | 0.3267 | likely_benign | 0.2803 | benign | -0.717 | Destabilizing | 0.999 | D | 0.884 | deleterious | D | 0.535947532 | None | None | I |
| S/V | 0.8665 | likely_pathogenic | 0.7678 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| S/W | 0.9836 | likely_pathogenic | 0.9678 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| S/Y | 0.9744 | likely_pathogenic | 0.9524 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.565487453 | 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.