Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34023 | 102292;102293;102294 | chr2:178534548;178534547;178534546 | chr2:179399275;179399274;179399273 |
| N2AB | 32382 | 97369;97370;97371 | chr2:178534548;178534547;178534546 | chr2:179399275;179399274;179399273 |
| N2A | 31455 | 94588;94589;94590 | chr2:178534548;178534547;178534546 | chr2:179399275;179399274;179399273 |
| N2B | 24958 | 75097;75098;75099 | chr2:178534548;178534547;178534546 | chr2:179399275;179399274;179399273 |
| Novex-1 | 25083 | 75472;75473;75474 | chr2:178534548;178534547;178534546 | chr2:179399275;179399274;179399273 |
| Novex-2 | 25150 | 75673;75674;75675 | chr2:178534548;178534547;178534546 | chr2:179399275;179399274;179399273 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 211
- Q(SASA): 0.106
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs1254337927  |
-2.596 | None | N | None | 0.249 | 0.774682572193 | 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 |
| I/N | rs1254337927 |
-2.596 | None | N | None | 0.249 | 0.774682572193 | 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 |
| I/N | rs1254337927 |
-2.596 | None | N | None | 0.249 | 0.774682572193 | gnomAD-4.0.0 | 2.02987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40983E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7291 | likely_pathogenic | 0.7038 | pathogenic | -2.741 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9083 | likely_pathogenic | 0.9002 | pathogenic | -2.39 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9427 | likely_pathogenic | 0.9365 | pathogenic | -3.588 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.8348 | likely_pathogenic | 0.8202 | pathogenic | -3.416 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.4664 | ambiguous | 0.4719 | ambiguous | -1.612 | Destabilizing | None | None | None | None | N | 0.515068429 | None | None | N |
| I/G | 0.9471 | likely_pathogenic | 0.938 | pathogenic | -3.193 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.8843 | likely_pathogenic | 0.8639 | pathogenic | -2.521 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.756 | likely_pathogenic | 0.6891 | pathogenic | -2.192 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2051 | likely_benign | 0.1974 | benign | -1.441 | Destabilizing | None | None | None | None | N | 0.425387787 | None | None | N |
| I/M | 0.1105 | likely_benign | 0.1129 | benign | -1.617 | Destabilizing | None | None | None | None | N | 0.467506556 | None | None | N |
| I/N | 0.6563 | likely_pathogenic | 0.6215 | pathogenic | -2.537 | Highly Destabilizing | None | None | None | None | N | 0.488187998 | None | None | N |
| I/P | 0.9877 | likely_pathogenic | 0.987 | pathogenic | -1.858 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.7413 | likely_pathogenic | 0.7204 | pathogenic | -2.487 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.6864 | likely_pathogenic | 0.6284 | pathogenic | -1.766 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.7537 | likely_pathogenic | 0.732 | pathogenic | -3.088 | Highly Destabilizing | None | None | None | None | D | 0.526112142 | None | None | N |
| I/T | 0.6331 | likely_pathogenic | 0.5773 | pathogenic | -2.795 | Highly Destabilizing | None | None | None | None | N | 0.412461349 | None | None | N |
| I/V | 0.1631 | likely_benign | 0.1444 | benign | -1.858 | Destabilizing | None | None | None | None | N | 0.476547327 | None | None | N |
| I/W | 0.9516 | likely_pathogenic | 0.9488 | pathogenic | -1.979 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.7774 | likely_pathogenic | 0.7544 | pathogenic | -1.794 | 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.