Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33814 | 101665;101666;101667 | chr2:178535175;178535174;178535173 | chr2:179399902;179399901;179399900 |
| N2AB | 32173 | 96742;96743;96744 | chr2:178535175;178535174;178535173 | chr2:179399902;179399901;179399900 |
| N2A | 31246 | 93961;93962;93963 | chr2:178535175;178535174;178535173 | chr2:179399902;179399901;179399900 |
| N2B | 24749 | 74470;74471;74472 | chr2:178535175;178535174;178535173 | chr2:179399902;179399901;179399900 |
| Novex-1 | 24874 | 74845;74846;74847 | chr2:178535175;178535174;178535173 | chr2:179399902;179399901;179399900 |
| Novex-2 | 24941 | 75046;75047;75048 | chr2:178535175;178535174;178535173 | chr2:179399902;179399901;179399900 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 2
- Q(SASA): 0.1568
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1690878070  |
None | None | N | None | 0.036 | 0.264547087235 | gnomAD-4.0.0 | 3.18212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| E/K | rs760254702 |
0.033 | None | N | None | 0.232 | 0.315903272564 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/K | rs760254702 |
0.033 | None | N | None | 0.232 | 0.315903272564 | gnomAD-4.0.0 | 4.77327E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| E/V | None | None | None | N | None | 0.238 | 0.40417439687 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1337 | likely_benign | 0.1517 | benign | -0.349 | Destabilizing | None | None | None | None | N | 0.446648494 | None | None | N |
| E/C | 0.7648 | likely_pathogenic | 0.8575 | pathogenic | -0.416 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1252 | likely_benign | 0.142 | benign | -0.622 | Destabilizing | None | None | None | None | N | 0.444741552 | None | None | N |
| E/F | 0.6489 | likely_pathogenic | 0.7317 | pathogenic | 0.261 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.141 | likely_benign | 0.1734 | benign | -0.635 | Destabilizing | None | None | None | None | N | 0.446995211 | None | None | N |
| E/H | 0.4252 | ambiguous | 0.5051 | ambiguous | 0.59 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.3006 | likely_benign | 0.3624 | ambiguous | 0.405 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.1897 | likely_benign | 0.2177 | benign | 0.09 | Stabilizing | None | None | None | None | N | 0.445434986 | None | None | N |
| E/L | 0.3397 | likely_benign | 0.3931 | ambiguous | 0.405 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.4168 | ambiguous | 0.4785 | ambiguous | 0.309 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.2115 | likely_benign | 0.2847 | benign | -0.572 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.5105 | ambiguous | 0.6804 | pathogenic | 0.175 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.1593 | likely_benign | 0.1803 | benign | -0.442 | Destabilizing | None | None | None | None | N | 0.445781702 | None | None | N |
| E/R | 0.306 | likely_benign | 0.3407 | ambiguous | 0.531 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.1834 | likely_benign | 0.2369 | benign | -0.746 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.1912 | likely_benign | 0.2503 | benign | -0.489 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.17 | likely_benign | 0.2089 | benign | 0.175 | Stabilizing | None | None | None | None | N | 0.446995211 | None | None | N |
| E/W | 0.868 | likely_pathogenic | 0.9079 | pathogenic | 0.522 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.5093 | ambiguous | 0.5943 | pathogenic | 0.54 | 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.