Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34083 | 102472;102473;102474 | chr2:178534368;178534367;178534366 | chr2:179399095;179399094;179399093 |
| N2AB | 32442 | 97549;97550;97551 | chr2:178534368;178534367;178534366 | chr2:179399095;179399094;179399093 |
| N2A | 31515 | 94768;94769;94770 | chr2:178534368;178534367;178534366 | chr2:179399095;179399094;179399093 |
| N2B | 25018 | 75277;75278;75279 | chr2:178534368;178534367;178534366 | chr2:179399095;179399094;179399093 |
| Novex-1 | 25143 | 75652;75653;75654 | chr2:178534368;178534367;178534366 | chr2:179399095;179399094;179399093 |
| Novex-2 | 25210 | 75853;75854;75855 | chr2:178534368;178534367;178534366 | chr2:179399095;179399094;179399093 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAA
- RefSeq wild type template codon: TTT
- Domain: Kinase-1
- Domain position: 271
- Q(SASA): 0.4839
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | None | None | None | N | None | 0.096 | 0.152612264143 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6293 | likely_pathogenic | 0.5864 | pathogenic | 0.016 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.9307 | likely_pathogenic | 0.9294 | pathogenic | -0.155 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.7931 | likely_pathogenic | 0.799 | pathogenic | 0.052 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.4931 | ambiguous | 0.4788 | ambiguous | 0.073 | Stabilizing | None | None | None | None | N | 0.427752436 | None | None | N |
| K/F | 0.9634 | likely_pathogenic | 0.9601 | pathogenic | -0.103 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.7668 | likely_pathogenic | 0.7511 | pathogenic | -0.217 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.5899 | likely_pathogenic | 0.5947 | pathogenic | -0.562 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.7864 | likely_pathogenic | 0.7724 | pathogenic | 0.557 | Stabilizing | None | None | None | None | N | 0.427405719 | None | None | N |
| K/L | 0.7659 | likely_pathogenic | 0.7463 | pathogenic | 0.557 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.655 | likely_pathogenic | 0.6116 | pathogenic | 0.321 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.7525 | likely_pathogenic | 0.7536 | pathogenic | 0.189 | Stabilizing | None | None | None | None | N | 0.427925794 | None | None | N |
| K/P | 0.9264 | likely_pathogenic | 0.9501 | pathogenic | 0.406 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.4021 | ambiguous | 0.3892 | ambiguous | 0.036 | Stabilizing | None | None | None | None | N | 0.427752436 | None | None | N |
| K/R | 0.1347 | likely_benign | 0.1394 | benign | -0.142 | Destabilizing | None | None | None | None | N | 0.427752436 | None | None | N |
| K/S | 0.7473 | likely_pathogenic | 0.7273 | pathogenic | -0.29 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.4534 | ambiguous | 0.4265 | ambiguous | -0.112 | Destabilizing | None | None | None | None | N | 0.427579078 | None | None | N |
| K/V | 0.7006 | likely_pathogenic | 0.69 | pathogenic | 0.406 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9572 | likely_pathogenic | 0.9526 | pathogenic | -0.113 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.8965 | likely_pathogenic | 0.8873 | pathogenic | 0.234 | Stabilizing | 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.