Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33906 | 101941;101942;101943 | chr2:178534899;178534898;178534897 | chr2:179399626;179399625;179399624 |
| N2AB | 32265 | 97018;97019;97020 | chr2:178534899;178534898;178534897 | chr2:179399626;179399625;179399624 |
| N2A | 31338 | 94237;94238;94239 | chr2:178534899;178534898;178534897 | chr2:179399626;179399625;179399624 |
| N2B | 24841 | 74746;74747;74748 | chr2:178534899;178534898;178534897 | chr2:179399626;179399625;179399624 |
| Novex-1 | 24966 | 75121;75122;75123 | chr2:178534899;178534898;178534897 | chr2:179399626;179399625;179399624 |
| Novex-2 | 25033 | 75322;75323;75324 | chr2:178534899;178534898;178534897 | chr2:179399626;179399625;179399624 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACA
- RefSeq wild type template codon: TGT
- Domain: Kinase-1
- Domain position: 94
- Q(SASA): 0.3074
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs776487376  |
-0.423 | None | N | None | 0.204 | 0.277730125212 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs776487376 |
-0.423 | None | N | None | 0.204 | 0.277730125212 | gnomAD-4.0.0 | 6.8625E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52003E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | None | None | None | N | None | 0.309 | 0.275215494804 | 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 |
| T/R | None | None | None | N | None | 0.372 | 0.319970858106 | gnomAD-4.0.0 | 2.745E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59787E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1342 | likely_benign | 0.1106 | benign | -0.621 | Destabilizing | None | None | None | None | N | 0.411244188 | None | None | N |
| T/C | 0.5656 | likely_pathogenic | 0.506 | ambiguous | -0.337 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.5845 | likely_pathogenic | 0.536 | ambiguous | 0.207 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.572 | likely_pathogenic | 0.5188 | ambiguous | 0.153 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.5144 | ambiguous | 0.4794 | ambiguous | -1.043 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.357 | ambiguous | 0.3271 | benign | -0.787 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.442 | ambiguous | 0.4066 | ambiguous | -1.094 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.3293 | likely_benign | 0.2915 | benign | -0.296 | Destabilizing | None | None | None | None | N | 0.480970846 | None | None | N |
| T/K | 0.4646 | ambiguous | 0.4056 | ambiguous | -0.454 | Destabilizing | None | None | None | None | N | 0.406433014 | None | None | N |
| T/L | 0.1994 | likely_benign | 0.1798 | benign | -0.296 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.2063 | likely_benign | 0.1798 | benign | -0.045 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1998 | likely_benign | 0.1949 | benign | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.3049 | likely_benign | 0.2101 | benign | -0.374 | Destabilizing | None | None | None | None | N | 0.461942368 | None | None | N |
| T/Q | 0.4349 | ambiguous | 0.4035 | ambiguous | -0.482 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.3687 | ambiguous | 0.3209 | benign | -0.207 | Destabilizing | None | None | None | None | N | 0.414321779 | None | None | N |
| T/S | 0.1776 | likely_benign | 0.1597 | benign | -0.543 | Destabilizing | None | None | None | None | N | 0.403547425 | None | None | N |
| T/V | 0.2396 | likely_benign | 0.2158 | benign | -0.374 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.8677 | likely_pathogenic | 0.8367 | pathogenic | -1.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.531 | ambiguous | 0.504 | ambiguous | -0.743 | 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.