Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33949 | 102070;102071;102072 | chr2:178534770;178534769;178534768 | chr2:179399497;179399496;179399495 |
| N2AB | 32308 | 97147;97148;97149 | chr2:178534770;178534769;178534768 | chr2:179399497;179399496;179399495 |
| N2A | 31381 | 94366;94367;94368 | chr2:178534770;178534769;178534768 | chr2:179399497;179399496;179399495 |
| N2B | 24884 | 74875;74876;74877 | chr2:178534770;178534769;178534768 | chr2:179399497;179399496;179399495 |
| Novex-1 | 25009 | 75250;75251;75252 | chr2:178534770;178534769;178534768 | chr2:179399497;179399496;179399495 |
| Novex-2 | 25076 | 75451;75452;75453 | chr2:178534770;178534769;178534768 | chr2:179399497;179399496;179399495 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACC
- RefSeq wild type template codon: TGG
- Domain: Kinase-1
- Domain position: 137
- Q(SASA): 0.2465
- 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 | rs1559040993  |
None | None | N | None | 0.399 | 0.350746614512 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/I | rs1559040993 |
None | None | N | None | 0.399 | 0.350746614512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1559040993 |
None | None | N | None | 0.399 | 0.350746614512 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 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 | 0.495 | ambiguous | 0.434 | ambiguous | -0.893 | Destabilizing | None | None | None | None | N | 0.430080665 | None | None | N |
| T/C | 0.8334 | likely_pathogenic | 0.8066 | pathogenic | -0.752 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.8783 | likely_pathogenic | 0.8522 | pathogenic | -0.701 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.878 | likely_pathogenic | 0.8358 | pathogenic | -0.727 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.9172 | likely_pathogenic | 0.8706 | pathogenic | -1.299 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.6568 | likely_pathogenic | 0.6224 | pathogenic | -1.062 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.8069 | likely_pathogenic | 0.7683 | pathogenic | -1.403 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.8671 | likely_pathogenic | 0.8195 | pathogenic | -0.54 | Destabilizing | None | None | None | None | N | 0.465270674 | None | None | N |
| T/K | 0.744 | likely_pathogenic | 0.6826 | pathogenic | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.6272 | likely_pathogenic | 0.5496 | ambiguous | -0.54 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.4723 | ambiguous | 0.3975 | ambiguous | -0.105 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.4468 | ambiguous | 0.4354 | ambiguous | -0.587 | Destabilizing | None | None | None | None | N | 0.405723725 | None | None | N |
| T/P | 0.7258 | likely_pathogenic | 0.6698 | pathogenic | -0.631 | Destabilizing | None | None | None | None | N | 0.438777506 | None | None | N |
| T/Q | 0.7673 | likely_pathogenic | 0.7247 | pathogenic | -0.955 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.7441 | likely_pathogenic | 0.6664 | pathogenic | -0.276 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.4025 | ambiguous | 0.374 | ambiguous | -0.824 | Destabilizing | None | None | None | None | N | 0.362298235 | None | None | N |
| T/V | 0.7294 | likely_pathogenic | 0.6663 | pathogenic | -0.631 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9737 | likely_pathogenic | 0.9559 | pathogenic | -1.183 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.9024 | likely_pathogenic | 0.8537 | pathogenic | -0.908 | 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.