Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33844 | 101755;101756;101757 | chr2:178535085;178535084;178535083 | chr2:179399812;179399811;179399810 |
| N2AB | 32203 | 96832;96833;96834 | chr2:178535085;178535084;178535083 | chr2:179399812;179399811;179399810 |
| N2A | 31276 | 94051;94052;94053 | chr2:178535085;178535084;178535083 | chr2:179399812;179399811;179399810 |
| N2B | 24779 | 74560;74561;74562 | chr2:178535085;178535084;178535083 | chr2:179399812;179399811;179399810 |
| Novex-1 | 24904 | 74935;74936;74937 | chr2:178535085;178535084;178535083 | chr2:179399812;179399811;179399810 |
| Novex-2 | 24971 | 75136;75137;75138 | chr2:178535085;178535084;178535083 | chr2:179399812;179399811;179399810 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACA
- RefSeq wild type template codon: TGT
- Domain: Kinase-1
- Domain position: 32
- Q(SASA): 0.2325
- Predicted PPI site: N
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 | rs1559043994  |
0.126 | None | N | None | 0.504 | 0.514240282655 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/I | rs1559043994 |
0.126 | None | N | None | 0.504 | 0.514240282655 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1559043994 |
0.126 | None | N | None | 0.504 | 0.514240282655 | gnomAD-4.0.0 | 2.56211E-06 | None | None | None | None | N | None | 1.6913E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39261E-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 | 0.2892 | likely_benign | 0.2818 | benign | -0.833 | Destabilizing | None | None | None | None | N | 0.466370405 | None | None | N |
| T/C | 0.7383 | likely_pathogenic | 0.7524 | pathogenic | -0.364 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.8866 | likely_pathogenic | 0.8788 | pathogenic | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.8345 | likely_pathogenic | 0.8192 | pathogenic | 0.029 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.7515 | likely_pathogenic | 0.71 | pathogenic | -0.674 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.723 | likely_pathogenic | 0.7236 | pathogenic | -1.175 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.7225 | likely_pathogenic | 0.7095 | pathogenic | -1.222 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.488 | ambiguous | 0.4092 | ambiguous | 0.022 | Stabilizing | None | None | None | None | N | 0.44045324 | None | None | N |
| T/K | 0.7355 | likely_pathogenic | 0.7121 | pathogenic | -0.289 | Destabilizing | None | None | None | None | N | 0.427889375 | None | None | N |
| T/L | 0.3793 | ambiguous | 0.3519 | ambiguous | 0.022 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.2621 | likely_benign | 0.2572 | benign | 0.018 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.419 | ambiguous | 0.444 | ambiguous | -0.57 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.5298 | ambiguous | 0.5159 | ambiguous | -0.23 | Destabilizing | None | None | None | None | N | 0.45242246 | None | None | N |
| T/Q | 0.7172 | likely_pathogenic | 0.7087 | pathogenic | -0.501 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.6641 | likely_pathogenic | 0.6212 | pathogenic | -0.285 | Destabilizing | None | None | None | None | N | 0.441512033 | None | None | N |
| T/S | 0.3837 | ambiguous | 0.397 | ambiguous | -0.914 | Destabilizing | None | None | None | None | N | 0.445091056 | None | None | N |
| T/V | 0.3685 | ambiguous | 0.3246 | benign | -0.23 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9214 | likely_pathogenic | 0.9117 | pathogenic | -0.703 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.7003 | likely_pathogenic | 0.6746 | pathogenic | -0.38 | 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.