Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33898 | 101917;101918;101919 | chr2:178534923;178534922;178534921 | chr2:179399650;179399649;179399648 |
| N2AB | 32257 | 96994;96995;96996 | chr2:178534923;178534922;178534921 | chr2:179399650;179399649;179399648 |
| N2A | 31330 | 94213;94214;94215 | chr2:178534923;178534922;178534921 | chr2:179399650;179399649;179399648 |
| N2B | 24833 | 74722;74723;74724 | chr2:178534923;178534922;178534921 | chr2:179399650;179399649;179399648 |
| Novex-1 | 24958 | 75097;75098;75099 | chr2:178534923;178534922;178534921 | chr2:179399650;179399649;179399648 |
| Novex-2 | 25025 | 75298;75299;75300 | chr2:178534923;178534922;178534921 | chr2:179399650;179399649;179399648 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTT
- RefSeq wild type template codon: GAA
- Domain: Kinase-1
- Domain position: 86
- Q(SASA): 0.1554
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs371930491  |
None | None | N | None | 0.18 | None | gnomAD-4.0.0 | 2.74189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51991E-05 | None | 0 | 0 | 1.79894E-06 | 0 | 1.65722E-05 |
| L/P | rs1575286611 |
None | None | N | None | 0.34 | 0.484256599201 | gnomAD-4.0.0 | 2.40067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 6.07607E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3174 | likely_benign | 0.3274 | benign | -2.206 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.6077 | likely_pathogenic | 0.6509 | pathogenic | -2.134 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.8185 | likely_pathogenic | 0.8082 | pathogenic | -2.671 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.5232 | ambiguous | 0.5219 | ambiguous | -2.583 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.2453 | likely_benign | 0.2845 | benign | -1.54 | Destabilizing | None | None | None | None | N | 0.495420223 | None | None | N |
| L/G | 0.6264 | likely_pathogenic | 0.6187 | pathogenic | -2.576 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.3693 | ambiguous | 0.414 | ambiguous | -1.724 | Destabilizing | None | None | None | None | N | 0.458248701 | None | None | N |
| L/I | 0.123 | likely_benign | 0.1206 | benign | -1.198 | Destabilizing | None | None | None | None | N | 0.439316224 | None | None | N |
| L/K | 0.384 | ambiguous | 0.4056 | ambiguous | -1.619 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.1275 | likely_benign | 0.1482 | benign | -1.359 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.4683 | ambiguous | 0.48 | ambiguous | -1.77 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.7211 | likely_pathogenic | 0.6567 | pathogenic | -1.511 | Destabilizing | None | None | None | None | N | 0.470735209 | None | None | N |
| L/Q | 0.2249 | likely_benign | 0.2641 | benign | -1.919 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.3223 | likely_benign | 0.3368 | benign | -1.096 | Destabilizing | None | None | None | None | N | 0.440932377 | None | None | N |
| L/S | 0.3445 | ambiguous | 0.3571 | ambiguous | -2.391 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.2534 | likely_benign | 0.2548 | benign | -2.183 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.1225 | likely_benign | 0.1161 | benign | -1.511 | Destabilizing | None | None | None | None | N | 0.45449632 | None | None | N |
| L/W | 0.4172 | ambiguous | 0.456 | ambiguous | -1.672 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.5338 | ambiguous | 0.5981 | pathogenic | -1.425 | 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.