Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34007 | 102244;102245;102246 | chr2:178534596;178534595;178534594 | chr2:179399323;179399322;179399321 |
| N2AB | 32366 | 97321;97322;97323 | chr2:178534596;178534595;178534594 | chr2:179399323;179399322;179399321 |
| N2A | 31439 | 94540;94541;94542 | chr2:178534596;178534595;178534594 | chr2:179399323;179399322;179399321 |
| N2B | 24942 | 75049;75050;75051 | chr2:178534596;178534595;178534594 | chr2:179399323;179399322;179399321 |
| Novex-1 | 25067 | 75424;75425;75426 | chr2:178534596;178534595;178534594 | chr2:179399323;179399322;179399321 |
| Novex-2 | 25134 | 75625;75626;75627 | chr2:178534596;178534595;178534594 | chr2:179399323;179399322;179399321 |
| 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: 195
- Q(SASA): 0.055
- 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 | rs370702360  |
-2.544 | None | N | None | 0.382 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs370702360 |
-2.544 | None | N | None | 0.382 | None | 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 |
| V/A | rs370702360 |
-2.544 | None | N | None | 0.382 | None | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8037 | likely_pathogenic | 0.8043 | pathogenic | -2.111 | Highly Destabilizing | None | None | None | None | N | 0.470657851 | None | None | N |
| V/C | 0.9114 | likely_pathogenic | 0.9195 | pathogenic | -1.301 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9856 | likely_pathogenic | 0.9866 | pathogenic | -2.981 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.9648 | likely_pathogenic | 0.9644 | pathogenic | -2.669 | Highly Destabilizing | None | None | None | None | N | 0.412542549 | None | None | N |
| V/F | 0.7176 | likely_pathogenic | 0.7318 | pathogenic | -1.186 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.861 | likely_pathogenic | 0.8754 | pathogenic | -2.672 | Highly Destabilizing | None | None | None | None | N | 0.472341565 | None | None | N |
| V/H | 0.9812 | likely_pathogenic | 0.9793 | pathogenic | -2.767 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1522 | likely_benign | 0.1673 | benign | -0.455 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.9748 | likely_pathogenic | 0.9705 | pathogenic | -1.568 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6038 | likely_pathogenic | 0.6351 | pathogenic | -0.455 | Destabilizing | None | None | None | None | N | 0.469945775 | None | None | N |
| V/M | 0.632 | likely_pathogenic | 0.649 | pathogenic | -0.758 | Destabilizing | None | None | None | None | N | 0.480952203 | None | None | N |
| V/N | 0.943 | likely_pathogenic | 0.9492 | pathogenic | -2.313 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9928 | likely_pathogenic | 0.9927 | pathogenic | -0.994 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9556 | likely_pathogenic | 0.9571 | pathogenic | -1.886 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9483 | likely_pathogenic | 0.9447 | pathogenic | -1.881 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8424 | likely_pathogenic | 0.8506 | pathogenic | -2.656 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.721 | likely_pathogenic | 0.7084 | pathogenic | -2.194 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -1.705 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9588 | likely_pathogenic | 0.9596 | pathogenic | -1.466 | 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.