Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33855 | 101788;101789;101790 | chr2:178535052;178535051;178535050 | chr2:179399779;179399778;179399777 |
| N2AB | 32214 | 96865;96866;96867 | chr2:178535052;178535051;178535050 | chr2:179399779;179399778;179399777 |
| N2A | 31287 | 94084;94085;94086 | chr2:178535052;178535051;178535050 | chr2:179399779;179399778;179399777 |
| N2B | 24790 | 74593;74594;74595 | chr2:178535052;178535051;178535050 | chr2:179399779;179399778;179399777 |
| Novex-1 | 24915 | 74968;74969;74970 | chr2:178535052;178535051;178535050 | chr2:179399779;179399778;179399777 |
| Novex-2 | 24982 | 75169;75170;75171 | chr2:178535052;178535051;178535050 | chr2:179399779;179399778;179399777 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACT
- RefSeq wild type template codon: TGA
- Domain: Kinase-1
- Domain position: 43
- Q(SASA): 0.8319
- 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/A | None | None | None | N | None | 0.101 | 0.21737058555 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-06 | 0 | 0 |
| T/P | None | None | None | N | None | 0.256 | 0.391156786388 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-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 | 0.0853 | likely_benign | 0.0992 | benign | -0.165 | Destabilizing | None | None | None | None | N | 0.438741087 | None | None | N |
| T/C | 0.5613 | ambiguous | 0.6364 | pathogenic | -0.266 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.6071 | likely_pathogenic | 0.7001 | pathogenic | 0.216 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.5287 | ambiguous | 0.636 | pathogenic | 0.131 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.4994 | ambiguous | 0.572 | pathogenic | -0.777 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.323 | likely_benign | 0.3741 | ambiguous | -0.251 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.4542 | ambiguous | 0.5371 | ambiguous | -0.453 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.2827 | likely_benign | 0.367 | ambiguous | -0.063 | Destabilizing | None | None | None | None | N | 0.437626366 | None | None | N |
| T/K | 0.3208 | likely_benign | 0.4006 | ambiguous | -0.205 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.165 | likely_benign | 0.2066 | benign | -0.063 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.1321 | likely_benign | 0.1646 | benign | -0.043 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1819 | likely_benign | 0.2276 | benign | -0.025 | Destabilizing | None | None | None | None | N | 0.420675401 | None | None | N |
| T/P | 0.1793 | likely_benign | 0.2447 | benign | -0.071 | Destabilizing | None | None | None | None | N | 0.463466173 | None | None | N |
| T/Q | 0.3622 | ambiguous | 0.4407 | ambiguous | -0.227 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.2948 | likely_benign | 0.376 | ambiguous | 0.064 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1548 | likely_benign | 0.1767 | benign | -0.214 | Destabilizing | None | None | None | None | N | 0.416096301 | None | None | N |
| T/V | 0.1985 | likely_benign | 0.2452 | benign | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.8107 | likely_pathogenic | 0.8583 | pathogenic | -0.846 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.536 | ambiguous | 0.6172 | pathogenic | -0.522 | 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.