Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34046 | 102361;102362;102363 | chr2:178534479;178534478;178534477 | chr2:179399206;179399205;179399204 |
| N2AB | 32405 | 97438;97439;97440 | chr2:178534479;178534478;178534477 | chr2:179399206;179399205;179399204 |
| N2A | 31478 | 94657;94658;94659 | chr2:178534479;178534478;178534477 | chr2:179399206;179399205;179399204 |
| N2B | 24981 | 75166;75167;75168 | chr2:178534479;178534478;178534477 | chr2:179399206;179399205;179399204 |
| Novex-1 | 25106 | 75541;75542;75543 | chr2:178534479;178534478;178534477 | chr2:179399206;179399205;179399204 |
| Novex-2 | 25173 | 75742;75743;75744 | chr2:178534479;178534478;178534477 | chr2:179399206;179399205;179399204 |
| 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: 234
- Q(SASA): 0.0518
- 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/S | None | None | None | N | None | 0.36 | 0.427368086475 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85812E-06 | 0 | 0 |
| A/V | None | None | None | N | None | 0.46 | 0.599122672276 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8472 | likely_pathogenic | 0.79 | pathogenic | -0.735 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9778 | likely_pathogenic | 0.969 | pathogenic | -2.534 | Highly Destabilizing | None | None | None | None | D | 0.533425864 | None | None | N |
| A/E | 0.9578 | likely_pathogenic | 0.9397 | pathogenic | -2.217 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.947 | likely_pathogenic | 0.9273 | pathogenic | -0.494 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3233 | likely_benign | 0.2735 | benign | -1.398 | Destabilizing | None | None | None | None | N | 0.497164447 | None | None | N |
| A/H | 0.9856 | likely_pathogenic | 0.981 | pathogenic | -2.202 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.9208 | likely_pathogenic | 0.8906 | pathogenic | 0.74 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9907 | likely_pathogenic | 0.9866 | pathogenic | -0.814 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.7941 | likely_pathogenic | 0.7408 | pathogenic | 0.74 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.8174 | likely_pathogenic | 0.7594 | pathogenic | 0.234 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.951 | likely_pathogenic | 0.9335 | pathogenic | -1.554 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9846 | likely_pathogenic | 0.9803 | pathogenic | 0.25 | Stabilizing | None | None | None | None | D | 0.525032073 | None | None | N |
| A/Q | 0.9553 | likely_pathogenic | 0.9415 | pathogenic | -1.092 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9776 | likely_pathogenic | 0.9712 | pathogenic | -1.404 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.3008 | likely_benign | 0.2698 | benign | -1.802 | Destabilizing | None | None | None | None | N | 0.50221733 | None | None | N |
| A/T | 0.5381 | ambiguous | 0.4625 | ambiguous | -1.332 | Destabilizing | None | None | None | None | N | 0.513800672 | None | None | N |
| A/V | 0.7084 | likely_pathogenic | 0.6421 | pathogenic | 0.25 | Stabilizing | None | None | None | None | N | 0.50066994 | None | None | N |
| A/W | 0.9947 | likely_pathogenic | 0.9925 | pathogenic | -1.39 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9751 | likely_pathogenic | 0.9654 | pathogenic | -0.796 | 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.