Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33868 | 101827;101828;101829 | chr2:178535013;178535012;178535011 | chr2:179399740;179399739;179399738 |
| N2AB | 32227 | 96904;96905;96906 | chr2:178535013;178535012;178535011 | chr2:179399740;179399739;179399738 |
| N2A | 31300 | 94123;94124;94125 | chr2:178535013;178535012;178535011 | chr2:179399740;179399739;179399738 |
| N2B | 24803 | 74632;74633;74634 | chr2:178535013;178535012;178535011 | chr2:179399740;179399739;179399738 |
| Novex-1 | 24928 | 75007;75008;75009 | chr2:178535013;178535012;178535011 | chr2:179399740;179399739;179399738 |
| Novex-2 | 24995 | 75208;75209;75210 | chr2:178535013;178535012;178535011 | chr2:179399740;179399739;179399738 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAT
- RefSeq wild type template codon: TTA
- Domain: Kinase-1
- Domain position: 56
- Q(SASA): 0.3897
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs748022692  |
0.338 | None | N | None | 0.546 | 0.616296041436 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/I | rs748022692 |
0.338 | None | N | None | 0.546 | 0.616296041436 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8096 | likely_pathogenic | 0.7691 | pathogenic | -0.689 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.7477 | likely_pathogenic | 0.7619 | pathogenic | 0.162 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.5704 | likely_pathogenic | 0.5223 | ambiguous | 0.117 | Stabilizing | None | None | None | None | N | 0.460887228 | None | None | N |
| N/E | 0.8686 | likely_pathogenic | 0.8271 | pathogenic | 0.164 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9725 | likely_pathogenic | 0.9658 | pathogenic | -0.682 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.7361 | likely_pathogenic | 0.72 | pathogenic | -0.971 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.44 | ambiguous | 0.3948 | ambiguous | -0.786 | Destabilizing | None | None | None | None | N | 0.448843437 | None | None | N |
| N/I | 0.8821 | likely_pathogenic | 0.8743 | pathogenic | -0.002 | Destabilizing | None | None | None | None | N | 0.476299397 | None | None | N |
| N/K | 0.88 | likely_pathogenic | 0.8554 | pathogenic | 0.001 | Stabilizing | None | None | None | None | N | 0.346964289 | None | None | N |
| N/L | 0.7769 | likely_pathogenic | 0.7567 | pathogenic | -0.002 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.8804 | likely_pathogenic | 0.8757 | pathogenic | 0.394 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.9666 | likely_pathogenic | 0.9342 | pathogenic | -0.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.8156 | likely_pathogenic | 0.7763 | pathogenic | -0.552 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.8421 | likely_pathogenic | 0.7966 | pathogenic | -0.021 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.2709 | likely_benign | 0.2619 | benign | -0.55 | Destabilizing | None | None | None | None | N | 0.410266406 | None | None | N |
| N/T | 0.6319 | likely_pathogenic | 0.5683 | pathogenic | -0.315 | Destabilizing | None | None | None | None | N | 0.448150004 | None | None | N |
| N/V | 0.8606 | likely_pathogenic | 0.8493 | pathogenic | -0.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.977 | likely_pathogenic | 0.9725 | pathogenic | -0.485 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.7077 | likely_pathogenic | 0.6624 | pathogenic | -0.27 | Destabilizing | None | None | None | None | N | 0.472528373 | 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.