Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34065 | 102418;102419;102420 | chr2:178534422;178534421;178534420 | chr2:179399149;179399148;179399147 |
| N2AB | 32424 | 97495;97496;97497 | chr2:178534422;178534421;178534420 | chr2:179399149;179399148;179399147 |
| N2A | 31497 | 94714;94715;94716 | chr2:178534422;178534421;178534420 | chr2:179399149;179399148;179399147 |
| N2B | 25000 | 75223;75224;75225 | chr2:178534422;178534421;178534420 | chr2:179399149;179399148;179399147 |
| Novex-1 | 25125 | 75598;75599;75600 | chr2:178534422;178534421;178534420 | chr2:179399149;179399148;179399147 |
| Novex-2 | 25192 | 75799;75800;75801 | chr2:178534422;178534421;178534420 | chr2:179399149;179399148;179399147 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCG
- RefSeq wild type template codon: AGC
- Domain: Kinase-1
- Domain position: 253
- Q(SASA): 0.1991
- 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/L | rs769936820  |
0.151 | None | N | None | 0.247 | 0.645445361749 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs769936820 |
0.151 | None | N | None | 0.247 | 0.645445361749 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs769936820 |
0.151 | None | N | None | 0.247 | 0.645445361749 | gnomAD-4.0.0 | 7.70537E-06 | None | None | None | None | N | None | 1.69136E-05 | 6.77851E-05 | None | 0 | 0 | None | 0 | 0 | 2.39283E-06 | 0 | 0 |
| S/P | rs1690528772 |
None | None | N | None | 0.237 | 0.216624796971 | gnomAD-4.0.0 | 1.37007E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-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 | 0.078 | likely_benign | 0.0829 | benign | -0.498 | Destabilizing | None | None | None | None | N | 0.457422848 | None | None | N |
| S/C | 0.2367 | likely_benign | 0.2235 | benign | -0.355 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.3956 | ambiguous | 0.3632 | ambiguous | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.3994 | ambiguous | 0.3619 | ambiguous | -0.382 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.3286 | likely_benign | 0.2786 | benign | -0.932 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1547 | likely_benign | 0.1651 | benign | -0.658 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.3604 | ambiguous | 0.3172 | benign | -1.208 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.2622 | likely_benign | 0.2354 | benign | -0.198 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.5331 | ambiguous | 0.4663 | ambiguous | -0.744 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1577 | likely_benign | 0.1474 | benign | -0.198 | Destabilizing | None | None | None | None | N | 0.496615954 | None | None | N |
| S/M | 0.2879 | likely_benign | 0.264 | benign | 0.178 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.2046 | likely_benign | 0.2006 | benign | -0.528 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.3651 | ambiguous | 0.3685 | ambiguous | -0.267 | Destabilizing | None | None | None | None | N | 0.498405466 | None | None | N |
| S/Q | 0.4235 | ambiguous | 0.3842 | ambiguous | -0.813 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.486 | ambiguous | 0.4243 | ambiguous | -0.482 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.1094 | likely_benign | 0.1107 | benign | -0.588 | Destabilizing | None | None | None | None | N | 0.479126272 | None | None | N |
| S/V | 0.2443 | likely_benign | 0.2306 | benign | -0.267 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.4551 | ambiguous | 0.4022 | ambiguous | -0.912 | Destabilizing | None | None | None | None | N | 0.48717404 | None | None | N |
| S/Y | 0.245 | likely_benign | 0.2031 | benign | -0.663 | 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.