Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3692 | 11299;11300;11301 | chr2:178756402;178756401;178756400 | chr2:179621129;179621128;179621127 |
| 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 | 3521 | 10786;10787;10788 | chr2:178756402;178756401;178756400 | chr2:179621129;179621128;179621127 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs767415803  |
0.201 | None | None | None | 0.103 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65948E-04 |
| T/I | rs767415803 |
0.201 | None | None | None | 0.103 | None | gnomAD-4.0.0 | 1.71055E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.06874E-05 | 0 | 3.31312E-05 |
| T/N | rs767415803 |
-0.707 | None | None | None | 0.147 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/N | rs767415803 |
-0.707 | None | None | None | 0.147 | None | gnomAD-4.0.0 | 6.15799E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09505E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1091 | likely_benign | None | None | -0.873 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/C | 0.4491 | ambiguous | None | None | -0.491 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.4185 | ambiguous | None | None | -0.348 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.2649 | likely_benign | None | None | -0.301 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.2225 | likely_benign | None | None | -0.709 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3794 | ambiguous | None | None | -1.189 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.2472 | likely_benign | None | None | -1.372 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1273 | likely_benign | None | None | -0.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/K | 0.1811 | likely_benign | None | None | -0.783 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1056 | likely_benign | None | None | -0.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.0883 | likely_benign | None | None | 0.088 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1612 | likely_benign | None | None | -0.835 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.4676 | ambiguous | None | None | -0.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Q | 0.199 | likely_benign | None | None | -0.892 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.1353 | likely_benign | None | None | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1378 | likely_benign | None | None | -1.122 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/V | 0.1372 | likely_benign | None | None | -0.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.5673 | likely_pathogenic | None | None | -0.685 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.3058 | likely_benign | None | None | -0.45 | Destabilizing | None | None | None | None | 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.