Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34001 | 102226;102227;102228 | chr2:178534614;178534613;178534612 | chr2:179399341;179399340;179399339 |
| N2AB | 32360 | 97303;97304;97305 | chr2:178534614;178534613;178534612 | chr2:179399341;179399340;179399339 |
| N2A | 31433 | 94522;94523;94524 | chr2:178534614;178534613;178534612 | chr2:179399341;179399340;179399339 |
| N2B | 24936 | 75031;75032;75033 | chr2:178534614;178534613;178534612 | chr2:179399341;179399340;179399339 |
| Novex-1 | 25061 | 75406;75407;75408 | chr2:178534614;178534613;178534612 | chr2:179399341;179399340;179399339 |
| Novex-2 | 25128 | 75607;75608;75609 | chr2:178534614;178534613;178534612 | chr2:179399341;179399340;179399339 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTT
- RefSeq wild type template codon: GAA
- Domain: Kinase-1
- Domain position: 189
- Q(SASA): 0.1411
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1225450640  |
None | None | N | None | 0.215 | 0.550334908387 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs1225450640 |
None | None | N | None | 0.215 | 0.550334908387 | gnomAD-4.0.0 | 2.02983E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13302E-04 | None | 0 | 0 | 0 | 4.6966E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.708 | likely_pathogenic | 0.6823 | pathogenic | -2.712 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9129 | likely_pathogenic | 0.8895 | pathogenic | -2.203 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9957 | likely_pathogenic | 0.9947 | pathogenic | -3.082 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9692 | likely_pathogenic | 0.9653 | pathogenic | -2.805 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.662 | likely_pathogenic | 0.5862 | pathogenic | -1.701 | Destabilizing | None | None | None | None | N | 0.490825267 | None | None | N |
| L/G | 0.973 | likely_pathogenic | 0.9697 | pathogenic | -3.32 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9639 | likely_pathogenic | 0.9582 | pathogenic | -2.896 | Highly Destabilizing | None | None | None | None | N | 0.501141606 | None | None | N |
| L/I | 0.1906 | likely_benign | 0.167 | benign | -0.929 | Destabilizing | None | None | None | None | N | 0.485710235 | None | None | N |
| L/K | 0.9622 | likely_pathogenic | 0.9537 | pathogenic | -2.297 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.3362 | likely_benign | 0.3053 | benign | -0.922 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9764 | likely_pathogenic | 0.9708 | pathogenic | -2.808 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9735 | likely_pathogenic | 0.9709 | pathogenic | -1.506 | Destabilizing | None | None | None | None | N | 0.512497911 | None | None | N |
| L/Q | 0.9341 | likely_pathogenic | 0.9259 | pathogenic | -2.549 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.9435 | likely_pathogenic | 0.9346 | pathogenic | -2.147 | Highly Destabilizing | None | None | None | None | N | 0.511990932 | None | None | N |
| L/S | 0.9213 | likely_pathogenic | 0.9115 | pathogenic | -3.529 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.6313 | likely_pathogenic | 0.5905 | pathogenic | -3.079 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.174 | likely_benign | 0.1541 | benign | -1.506 | Destabilizing | None | None | None | None | N | 0.439052439 | None | None | N |
| L/W | 0.9455 | likely_pathogenic | 0.9371 | pathogenic | -2.118 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9603 | likely_pathogenic | 0.9494 | pathogenic | -1.829 | 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.