Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3688 | 11287;11288;11289 | chr2:178756414;178756413;178756412 | chr2:179621141;179621140;179621139 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3517 | 10774;10775;10776 | chr2:178756414;178756413;178756412 | chr2:179621141;179621140;179621139 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs377296133  |
-0.61 | None | None | None | 0.089 | None | gnomAD-2.1.1 | 5.71E-05 | None | None | None | None | I | None | 0 | 0 | None | 9.67E-05 | 0 | None | 0 | None | 0 | 1.17177E-04 | 0 |
| F/S | rs377296133 |
-0.61 | None | None | None | 0.089 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02905E-04 | 0 | 0 |
| F/S | rs377296133 |
-0.61 | None | None | None | 0.089 | None | gnomAD-4.0.0 | 2.29288E-05 | None | None | None | None | I | None | 0 | 0 | None | 3.37769E-05 | 0 | None | 0 | 0 | 2.8818E-05 | 0 | 3.20174E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.0981 | likely_benign | None | None | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/C | 0.0951 | likely_benign | None | None | -0.363 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/D | 0.1647 | likely_benign | None | None | 0.665 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/E | 0.2943 | likely_benign | None | None | 0.624 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/G | 0.1937 | likely_benign | None | None | -0.688 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/H | 0.2105 | likely_benign | None | None | 0.196 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/I | 0.0737 | likely_benign | None | None | -0.383 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/K | 0.2996 | likely_benign | None | None | -0.05 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/L | 0.3582 | ambiguous | None | None | -0.383 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/M | 0.2162 | likely_benign | None | None | -0.471 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/N | 0.1266 | likely_benign | None | None | -0.061 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/P | 0.2803 | likely_benign | None | None | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Q | 0.2782 | likely_benign | None | None | -0.043 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/R | 0.2238 | likely_benign | None | None | 0.166 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/S | 0.0655 | likely_benign | None | None | -0.565 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/T | 0.1044 | likely_benign | None | None | -0.53 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/V | 0.0723 | likely_benign | None | None | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/W | 0.2782 | likely_benign | None | None | -0.526 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Y | 0.0967 | likely_benign | None | None | -0.44 | Destabilizing | None | None | None | None | None | None | 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.