Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34070 | 102433;102434;102435 | chr2:178534407;178534406;178534405 | chr2:179399134;179399133;179399132 |
| N2AB | 32429 | 97510;97511;97512 | chr2:178534407;178534406;178534405 | chr2:179399134;179399133;179399132 |
| N2A | 31502 | 94729;94730;94731 | chr2:178534407;178534406;178534405 | chr2:179399134;179399133;179399132 |
| N2B | 25005 | 75238;75239;75240 | chr2:178534407;178534406;178534405 | chr2:179399134;179399133;179399132 |
| Novex-1 | 25130 | 75613;75614;75615 | chr2:178534407;178534406;178534405 | chr2:179399134;179399133;179399132 |
| Novex-2 | 25197 | 75814;75815;75816 | chr2:178534407;178534406;178534405 | chr2:179399134;179399133;179399132 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 258
- Q(SASA): 0.105
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | None | None | None | N | None | 0.458 | 0.276065633971 | gnomAD-4.0.0 | 6.8546E-07 | None | None | None | None | N | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9704 | likely_pathogenic | 0.9648 | pathogenic | -1.935 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.8018 | likely_pathogenic | 0.7815 | pathogenic | -1.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.933 | likely_pathogenic | 0.9217 | pathogenic | -2.062 | Highly Destabilizing | None | None | None | None | N | 0.467135141 | None | None | N |
| H/E | 0.9671 | likely_pathogenic | 0.9571 | pathogenic | -1.846 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.9045 | likely_pathogenic | 0.8884 | pathogenic | 0.109 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.9874 | likely_pathogenic | 0.9858 | pathogenic | -2.363 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.9621 | likely_pathogenic | 0.953 | pathogenic | -0.647 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.9776 | likely_pathogenic | 0.9717 | pathogenic | -1.123 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.7109 | likely_pathogenic | 0.689 | pathogenic | -0.647 | Destabilizing | None | None | None | None | N | 0.492721361 | None | None | N |
| H/M | 0.9619 | likely_pathogenic | 0.9521 | pathogenic | -0.818 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.7886 | likely_pathogenic | 0.7538 | pathogenic | -2.0 | Highly Destabilizing | None | None | None | None | N | 0.477606074 | None | None | N |
| H/P | 0.9196 | likely_pathogenic | 0.9202 | pathogenic | -1.071 | Destabilizing | None | None | None | None | D | 0.524120933 | None | None | N |
| H/Q | 0.9703 | likely_pathogenic | 0.9618 | pathogenic | -1.58 | Destabilizing | None | None | None | None | N | 0.512093064 | None | None | N |
| H/R | 0.9743 | likely_pathogenic | 0.9666 | pathogenic | -1.27 | Destabilizing | None | None | None | None | N | 0.505509698 | None | None | N |
| H/S | 0.9211 | likely_pathogenic | 0.9068 | pathogenic | -2.122 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.981 | likely_pathogenic | 0.9777 | pathogenic | -1.786 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.9673 | likely_pathogenic | 0.9606 | pathogenic | -1.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.9307 | likely_pathogenic | 0.9199 | pathogenic | 0.729 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.6351 | likely_pathogenic | 0.5617 | ambiguous | 0.46 | Stabilizing | None | None | None | None | N | 0.493988809 | 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.