Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33978 | 102157;102158;102159 | chr2:178534683;178534682;178534681 | chr2:179399410;179399409;179399408 |
| N2AB | 32337 | 97234;97235;97236 | chr2:178534683;178534682;178534681 | chr2:179399410;179399409;179399408 |
| N2A | 31410 | 94453;94454;94455 | chr2:178534683;178534682;178534681 | chr2:179399410;179399409;179399408 |
| N2B | 24913 | 74962;74963;74964 | chr2:178534683;178534682;178534681 | chr2:179399410;179399409;179399408 |
| Novex-1 | 25038 | 75337;75338;75339 | chr2:178534683;178534682;178534681 | chr2:179399410;179399409;179399408 |
| Novex-2 | 25105 | 75538;75539;75540 | chr2:178534683;178534682;178534681 | chr2:179399410;179399409;179399408 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCC
- RefSeq wild type template codon: CGG
- Domain: Kinase-1
- Domain position: 166
- Q(SASA): 0.0916
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs756665400  |
-1.157 | None | N | None | 0.08 | 0.241664281697 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | rs756665400 |
-1.157 | None | N | None | 0.08 | 0.241664281697 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79897E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6473 | likely_pathogenic | 0.6565 | pathogenic | -0.424 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.6754 | likely_pathogenic | 0.8176 | pathogenic | -1.889 | Destabilizing | None | None | None | None | N | 0.518626022 | None | None | N |
| A/E | 0.5468 | ambiguous | 0.6922 | pathogenic | -1.691 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.6211 | likely_pathogenic | 0.7048 | pathogenic | -0.655 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3418 | ambiguous | 0.4245 | ambiguous | -1.263 | Destabilizing | None | None | None | None | N | 0.472277657 | None | None | N |
| A/H | 0.6888 | likely_pathogenic | 0.7906 | pathogenic | -1.675 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.5636 | ambiguous | 0.7302 | pathogenic | 0.376 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.7493 | likely_pathogenic | 0.8393 | pathogenic | -0.909 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.3595 | ambiguous | 0.4775 | ambiguous | 0.376 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.4429 | ambiguous | 0.5794 | pathogenic | 0.348 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.4901 | ambiguous | 0.6964 | pathogenic | -1.17 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.6358 | likely_pathogenic | 0.7419 | pathogenic | 0.021 | Stabilizing | None | None | None | None | N | 0.496597312 | None | None | N |
| A/Q | 0.5189 | ambiguous | 0.6539 | pathogenic | -0.999 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.65 | likely_pathogenic | 0.7283 | pathogenic | -1.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1046 | likely_benign | 0.1438 | benign | -1.548 | Destabilizing | None | None | None | None | N | 0.408799395 | None | None | N |
| A/T | 0.1558 | likely_benign | 0.2671 | benign | -1.223 | Destabilizing | None | None | None | None | N | 0.352164173 | None | None | N |
| A/V | 0.2772 | likely_benign | 0.3869 | ambiguous | 0.021 | Stabilizing | None | None | None | None | N | 0.486996394 | None | None | N |
| A/W | 0.939 | likely_pathogenic | 0.9554 | pathogenic | -1.417 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.7346 | likely_pathogenic | 0.8048 | pathogenic | -0.759 | 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.