Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34080 | 102463;102464;102465 | chr2:178534377;178534376;178534375 | chr2:179399104;179399103;179399102 |
| N2AB | 32439 | 97540;97541;97542 | chr2:178534377;178534376;178534375 | chr2:179399104;179399103;179399102 |
| N2A | 31512 | 94759;94760;94761 | chr2:178534377;178534376;178534375 | chr2:179399104;179399103;179399102 |
| N2B | 25015 | 75268;75269;75270 | chr2:178534377;178534376;178534375 | chr2:179399104;179399103;179399102 |
| Novex-1 | 25140 | 75643;75644;75645 | chr2:178534377;178534376;178534375 | chr2:179399104;179399103;179399102 |
| Novex-2 | 25207 | 75844;75845;75846 | chr2:178534377;178534376;178534375 | chr2:179399104;179399103;179399102 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTC
- RefSeq wild type template codon: CAG
- Domain: Kinase-1
- Domain position: 268
- Q(SASA): 0.1156
- 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/D | None | None | None | N | None | 0.274 | 0.653289980973 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| V/L | rs1467698015  |
-0.941 | None | N | None | 0.095 | 0.16115917748 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 1.241E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| V/L | rs1467698015 |
-0.941 | None | N | None | 0.095 | 0.16115917748 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs1467698015 |
-0.941 | None | N | None | 0.095 | 0.16115917748 | gnomAD-4.0.0 | 7.71686E-06 | None | None | None | None | N | None | 6.76521E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7856E-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 | 0.4394 | ambiguous | 0.495 | ambiguous | -1.847 | Destabilizing | None | None | None | None | N | 0.427925794 | None | None | N |
| V/C | 0.8586 | likely_pathogenic | 0.8889 | pathogenic | -1.536 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.7967 | likely_pathogenic | 0.8538 | pathogenic | -2.149 | Highly Destabilizing | None | None | None | None | N | 0.428272511 | None | None | N |
| V/E | 0.7013 | likely_pathogenic | 0.7767 | pathogenic | -2.122 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.3789 | ambiguous | 0.4378 | ambiguous | -1.498 | Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| V/G | 0.5152 | ambiguous | 0.5989 | pathogenic | -2.183 | Highly Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| V/H | 0.8583 | likely_pathogenic | 0.8966 | pathogenic | -1.646 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1133 | likely_benign | 0.1305 | benign | -1.0 | Destabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| V/K | 0.7442 | likely_pathogenic | 0.7998 | pathogenic | -1.504 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.3615 | ambiguous | 0.4201 | ambiguous | -1.0 | Destabilizing | None | None | None | None | N | 0.42636557 | None | None | N |
| V/M | 0.3781 | ambiguous | 0.4317 | ambiguous | -0.885 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.6373 | likely_pathogenic | 0.7244 | pathogenic | -1.458 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.886 | likely_pathogenic | 0.9393 | pathogenic | -1.251 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.6989 | likely_pathogenic | 0.7847 | pathogenic | -1.65 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.674 | likely_pathogenic | 0.7374 | pathogenic | -0.95 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.5787 | likely_pathogenic | 0.6569 | pathogenic | -1.987 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.4218 | ambiguous | 0.4605 | ambiguous | -1.852 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.947 | likely_pathogenic | 0.9629 | pathogenic | -1.7 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.7758 | likely_pathogenic | 0.8135 | pathogenic | -1.403 | 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.