Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33869 | 101830;101831;101832 | chr2:178535010;178535009;178535008 | chr2:179399737;179399736;179399735 |
| N2AB | 32228 | 96907;96908;96909 | chr2:178535010;178535009;178535008 | chr2:179399737;179399736;179399735 |
| N2A | 31301 | 94126;94127;94128 | chr2:178535010;178535009;178535008 | chr2:179399737;179399736;179399735 |
| N2B | 24804 | 74635;74636;74637 | chr2:178535010;178535009;178535008 | chr2:179399737;179399736;179399735 |
| Novex-1 | 24929 | 75010;75011;75012 | chr2:178535010;178535009;178535008 | chr2:179399737;179399736;179399735 |
| Novex-2 | 24996 | 75211;75212;75213 | chr2:178535010;178535009;178535008 | chr2:179399737;179399736;179399735 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 57
- Q(SASA): 0.5758
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1253957228  |
-0.404 | None | N | None | 0.193 | 0.550005317886 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 1.65673E-04 |
| I/T | rs1253957228 |
-0.404 | None | N | None | 0.193 | 0.550005317886 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13736E-04 | 0 |
| I/T | rs1253957228 |
-0.404 | None | N | None | 0.193 | 0.550005317886 | gnomAD-4.0.0 | 9.91477E-06 | None | None | None | None | I | None | 1.33451E-05 | 3.33356E-05 | None | 0 | 0 | None | 0 | 0 | 1.69512E-06 | 1.09784E-04 | 1.60108E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3816 | ambiguous | 0.3999 | ambiguous | -1.839 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/C | 0.7793 | likely_pathogenic | 0.774 | pathogenic | -1.09 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/D | 0.7958 | likely_pathogenic | 0.7752 | pathogenic | -1.256 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/E | 0.665 | likely_pathogenic | 0.6588 | pathogenic | -1.213 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/F | 0.3056 | likely_benign | 0.2838 | benign | -1.244 | Destabilizing | None | None | None | None | N | 0.449400798 | None | None | I |
| I/G | 0.7951 | likely_pathogenic | 0.7912 | pathogenic | -2.212 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| I/H | 0.6457 | likely_pathogenic | 0.6347 | pathogenic | -1.382 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/K | 0.4519 | ambiguous | 0.4546 | ambiguous | -1.279 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/L | 0.1627 | likely_benign | 0.1669 | benign | -0.862 | Destabilizing | None | None | None | None | N | 0.383541165 | None | None | I |
| I/M | 0.1329 | likely_benign | 0.138 | benign | -0.656 | Destabilizing | None | None | None | None | N | 0.444032263 | None | None | I |
| I/N | 0.4145 | ambiguous | 0.4056 | ambiguous | -1.128 | Destabilizing | None | None | None | None | N | 0.430062888 | None | None | I |
| I/P | 0.9553 | likely_pathogenic | 0.9419 | pathogenic | -1.158 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/Q | 0.5702 | likely_pathogenic | 0.5636 | ambiguous | -1.245 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/R | 0.3817 | ambiguous | 0.3735 | ambiguous | -0.71 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/S | 0.4327 | ambiguous | 0.4186 | ambiguous | -1.781 | Destabilizing | None | None | None | None | N | 0.363568538 | None | None | I |
| I/T | 0.2444 | likely_benign | 0.2522 | benign | -1.608 | Destabilizing | None | None | None | None | N | 0.428985453 | None | None | I |
| I/V | 0.0993 | likely_benign | 0.1102 | benign | -1.158 | Destabilizing | None | None | None | None | N | 0.431911115 | None | None | I |
| I/W | 0.881 | likely_pathogenic | 0.8662 | pathogenic | -1.343 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/Y | 0.6406 | likely_pathogenic | 0.5826 | pathogenic | -1.126 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.