Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33819 | 101680;101681;101682 | chr2:178535160;178535159;178535158 | chr2:179399887;179399886;179399885 |
| N2AB | 32178 | 96757;96758;96759 | chr2:178535160;178535159;178535158 | chr2:179399887;179399886;179399885 |
| N2A | 31251 | 93976;93977;93978 | chr2:178535160;178535159;178535158 | chr2:179399887;179399886;179399885 |
| N2B | 24754 | 74485;74486;74487 | chr2:178535160;178535159;178535158 | chr2:179399887;179399886;179399885 |
| Novex-1 | 24879 | 74860;74861;74862 | chr2:178535160;178535159;178535158 | chr2:179399887;179399886;179399885 |
| Novex-2 | 24946 | 75061;75062;75063 | chr2:178535160;178535159;178535158 | chr2:179399887;179399886;179399885 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAT
- RefSeq wild type template codon: ATA
- Domain: Kinase-1
- Domain position: 7
- Q(SASA): 0.0911
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | None | N | None | 0.55 | 0.627580677466 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9676 | likely_pathogenic | 0.9784 | pathogenic | -2.907 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.7821 | likely_pathogenic | 0.8554 | pathogenic | -2.01 | Highly Destabilizing | None | None | None | None | D | 0.531093735 | None | None | N |
| Y/D | 0.9449 | likely_pathogenic | 0.9622 | pathogenic | -3.638 | Highly Destabilizing | None | None | None | None | D | 0.531093735 | None | None | N |
| Y/E | 0.9828 | likely_pathogenic | 0.9877 | pathogenic | -3.412 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.1952 | likely_benign | 0.226 | benign | -1.051 | Destabilizing | None | None | None | None | N | 0.51703322 | None | None | N |
| Y/G | 0.9169 | likely_pathogenic | 0.9434 | pathogenic | -3.351 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.8812 | likely_pathogenic | 0.9132 | pathogenic | -2.222 | Highly Destabilizing | None | None | None | None | N | 0.51923045 | None | None | N |
| Y/I | 0.9034 | likely_pathogenic | 0.9161 | pathogenic | -1.428 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9814 | likely_pathogenic | 0.9854 | pathogenic | -2.391 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.8479 | likely_pathogenic | 0.8682 | pathogenic | -1.428 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.9312 | likely_pathogenic | 0.9432 | pathogenic | -1.301 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.8426 | likely_pathogenic | 0.8757 | pathogenic | -3.321 | Highly Destabilizing | None | None | None | None | D | 0.531093735 | None | None | N |
| Y/P | 0.985 | likely_pathogenic | 0.992 | pathogenic | -1.938 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9838 | likely_pathogenic | 0.9882 | pathogenic | -2.98 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.967 | likely_pathogenic | 0.9728 | pathogenic | -2.31 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.9262 | likely_pathogenic | 0.9508 | pathogenic | -3.62 | Highly Destabilizing | None | None | None | None | D | 0.531093735 | None | None | N |
| Y/T | 0.9599 | likely_pathogenic | 0.9718 | pathogenic | -3.259 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.8462 | likely_pathogenic | 0.8746 | pathogenic | -1.938 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.7821 | likely_pathogenic | 0.8103 | pathogenic | -0.441 | 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.