Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34123 | 102592;102593;102594 | chr2:178534248;178534247;178534246 | chr2:179398975;179398974;179398973 |
| N2AB | 32482 | 97669;97670;97671 | chr2:178534248;178534247;178534246 | chr2:179398975;179398974;179398973 |
| N2A | 31555 | 94888;94889;94890 | chr2:178534248;178534247;178534246 | chr2:179398975;179398974;179398973 |
| N2B | 25058 | 75397;75398;75399 | chr2:178534248;178534247;178534246 | chr2:179398975;179398974;179398973 |
| Novex-1 | 25183 | 75772;75773;75774 | chr2:178534248;178534247;178534246 | chr2:179398975;179398974;179398973 |
| Novex-2 | 25250 | 75973;75974;75975 | chr2:178534248;178534247;178534246 | chr2:179398975;179398974;179398973 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTG
- RefSeq wild type template codon: CAC
- Domain: Kinase-1
- Domain position: 311
- Q(SASA): 0.2148
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1060500587  |
-1.098 | None | N | None | 0.288 | 0.525205403968 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1060500587 |
-1.098 | None | N | None | 0.288 | 0.525205403968 | gnomAD-4.0.0 | 1.59097E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76554E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1060500587 |
None | None | N | None | 0.438 | 0.837596523542 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.85E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1060500587 |
None | None | N | None | 0.438 | 0.837596523542 | gnomAD-4.0.0 | 3.84472E-06 | None | None | None | None | N | None | 5.0882E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1690450339 |
None | None | N | None | 0.055 | 0.321951552304 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs1690450339 |
None | None | N | None | 0.055 | 0.321951552304 | gnomAD-4.0.0 | 2.02973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40979E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4677 | ambiguous | 0.4872 | ambiguous | -0.876 | Destabilizing | None | None | None | None | N | 0.446128419 | None | None | N |
| V/C | 0.8432 | likely_pathogenic | 0.8552 | pathogenic | -0.704 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.7972 | likely_pathogenic | 0.8197 | pathogenic | 0.069 | Stabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.7098 | likely_pathogenic | 0.7111 | pathogenic | 0.046 | Stabilizing | None | None | None | None | N | 0.446821852 | None | None | N |
| V/F | 0.2963 | likely_benign | 0.2894 | benign | -0.665 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.5262 | ambiguous | 0.5499 | ambiguous | -1.138 | Destabilizing | None | None | None | None | N | 0.447515286 | None | None | N |
| V/H | 0.8488 | likely_pathogenic | 0.8429 | pathogenic | -0.68 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0872 | likely_benign | 0.0965 | benign | -0.292 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.7201 | likely_pathogenic | 0.6658 | pathogenic | -0.535 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.3521 | ambiguous | 0.3928 | ambiguous | -0.292 | Destabilizing | None | None | None | None | N | 0.426849225 | None | None | N |
| V/M | 0.2687 | likely_benign | 0.3177 | benign | -0.363 | Destabilizing | None | None | None | None | N | 0.446475136 | None | None | N |
| V/N | 0.5951 | likely_pathogenic | 0.6362 | pathogenic | -0.335 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9009 | likely_pathogenic | 0.903 | pathogenic | -0.45 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.6657 | likely_pathogenic | 0.6597 | pathogenic | -0.45 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.6623 | likely_pathogenic | 0.5908 | pathogenic | -0.196 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.5395 | ambiguous | 0.5619 | ambiguous | -0.92 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.4559 | ambiguous | 0.4712 | ambiguous | -0.825 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9299 | likely_pathogenic | 0.936 | pathogenic | -0.801 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.739 | likely_pathogenic | 0.7183 | pathogenic | -0.477 | 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.