Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33840 | 101743;101744;101745 | chr2:178535097;178535096;178535095 | chr2:179399824;179399823;179399822 |
| N2AB | 32199 | 96820;96821;96822 | chr2:178535097;178535096;178535095 | chr2:179399824;179399823;179399822 |
| N2A | 31272 | 94039;94040;94041 | chr2:178535097;178535096;178535095 | chr2:179399824;179399823;179399822 |
| N2B | 24775 | 74548;74549;74550 | chr2:178535097;178535096;178535095 | chr2:179399824;179399823;179399822 |
| Novex-1 | 24900 | 74923;74924;74925 | chr2:178535097;178535096;178535095 | chr2:179399824;179399823;179399822 |
| Novex-2 | 24967 | 75124;75125;75126 | chr2:178535097;178535096;178535095 | chr2:179399824;179399823;179399822 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCC
- RefSeq wild type template codon: AGG
- Domain: Kinase-1
- Domain position: 28
- Q(SASA): 0.5327
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1202069310  |
None | None | D | None | 0.348 | 0.644913031241 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs1202069310 |
None | None | D | None | 0.348 | 0.644913031241 | gnomAD-4.0.0 | 5.12462E-06 | None | None | None | None | N | None | 0 | 1.69463E-05 | None | 0 | 0 | None | 0 | 0 | 7.17796E-06 | 0 | 0 |
| S/T | None | None | None | N | None | 0.094 | 0.143124449307 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85775E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0842 | likely_benign | 0.081 | benign | -0.257 | Destabilizing | None | None | None | None | N | 0.45942579 | None | None | N |
| S/C | 0.1535 | likely_benign | 0.1517 | benign | -0.258 | Destabilizing | None | None | None | None | D | 0.528229728 | None | None | N |
| S/D | 0.3353 | likely_benign | 0.2949 | benign | -0.038 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.4393 | ambiguous | 0.3895 | ambiguous | -0.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.2991 | likely_benign | 0.2572 | benign | -0.998 | Destabilizing | None | None | None | None | D | 0.525362781 | None | None | N |
| S/G | 0.1107 | likely_benign | 0.1099 | benign | -0.301 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.3504 | ambiguous | 0.2906 | benign | -0.74 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.1898 | likely_benign | 0.1637 | benign | -0.275 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.514 | ambiguous | 0.4249 | ambiguous | -0.352 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1357 | likely_benign | 0.1284 | benign | -0.275 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.2436 | likely_benign | 0.2351 | benign | -0.022 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1483 | likely_benign | 0.1343 | benign | -0.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.3087 | likely_benign | 0.2574 | benign | -0.245 | Destabilizing | None | None | None | None | N | 0.513260275 | None | None | N |
| S/Q | 0.4418 | ambiguous | 0.3931 | ambiguous | -0.384 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.4405 | ambiguous | 0.3524 | ambiguous | -0.103 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.0864 | likely_benign | 0.0889 | benign | -0.218 | Destabilizing | None | None | None | None | N | 0.492364928 | None | None | N |
| S/V | 0.1797 | likely_benign | 0.1616 | benign | -0.245 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.5113 | ambiguous | 0.4374 | ambiguous | -1.04 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.2644 | likely_benign | 0.2135 | benign | -0.742 | Destabilizing | None | None | None | None | D | 0.522591834 | 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.