Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33835 | 101728;101729;101730 | chr2:178535112;178535111;178535110 | chr2:179399839;179399838;179399837 |
| N2AB | 32194 | 96805;96806;96807 | chr2:178535112;178535111;178535110 | chr2:179399839;179399838;179399837 |
| N2A | 31267 | 94024;94025;94026 | chr2:178535112;178535111;178535110 | chr2:179399839;179399838;179399837 |
| N2B | 24770 | 74533;74534;74535 | chr2:178535112;178535111;178535110 | chr2:179399839;179399838;179399837 |
| Novex-1 | 24895 | 74908;74909;74910 | chr2:178535112;178535111;178535110 | chr2:179399839;179399838;179399837 |
| Novex-2 | 24962 | 75109;75110;75111 | chr2:178535112;178535111;178535110 | chr2:179399839;179399838;179399837 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGT
- RefSeq wild type template codon: GCA
- Domain: Kinase-1
- Domain position: 23
- Q(SASA): 0.2449
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs781516399  |
-1.378 | None | N | None | 0.468 | 0.60004767732 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/C | rs781516399 |
-1.378 | None | N | None | 0.468 | 0.60004767732 | gnomAD-4.0.0 | 7.95699E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 1.14314E-05 | 0 | 0 |
| R/H | rs373854384 |
-2.135 | None | N | None | 0.399 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 1.65344E-04 | 2.83E-05 | None | 0 | 1.02428E-04 | None | 0 | None | 0 | 2.35E-05 | 0 |
| R/H | rs373854384 |
-2.135 | None | N | None | 0.399 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs373854384 |
-2.135 | None | N | None | 0.399 | None | gnomAD-4.0.0 | 1.48727E-05 | None | None | None | None | N | None | 6.67521E-05 | 3.33367E-05 | None | 0 | 6.68271E-05 | None | 0 | 0 | 1.10183E-05 | 0 | 1.60102E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9847 | likely_pathogenic | 0.9631 | pathogenic | -1.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.8379 | likely_pathogenic | 0.7181 | pathogenic | -1.618 | Destabilizing | None | None | None | None | N | 0.509909673 | None | None | N |
| R/D | 0.9945 | likely_pathogenic | 0.9872 | pathogenic | -0.659 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.9519 | likely_pathogenic | 0.9116 | pathogenic | -0.461 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.9915 | likely_pathogenic | 0.9801 | pathogenic | -1.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.9724 | likely_pathogenic | 0.9314 | pathogenic | -1.99 | Destabilizing | None | None | None | None | N | 0.487110171 | None | None | N |
| R/H | 0.7038 | likely_pathogenic | 0.5155 | ambiguous | -1.968 | Destabilizing | None | None | None | None | N | 0.472564793 | None | None | N |
| R/I | 0.9596 | likely_pathogenic | 0.908 | pathogenic | -0.567 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.6699 | likely_pathogenic | 0.5467 | ambiguous | -1.304 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.9292 | likely_pathogenic | 0.8538 | pathogenic | -0.567 | Destabilizing | None | None | None | None | N | 0.378206263 | None | None | N |
| R/M | 0.9814 | likely_pathogenic | 0.9504 | pathogenic | -0.959 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.9903 | likely_pathogenic | 0.9768 | pathogenic | -1.12 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9961 | likely_pathogenic | 0.9908 | pathogenic | -0.902 | Destabilizing | None | None | None | None | N | 0.472738151 | None | None | N |
| R/Q | 0.7137 | likely_pathogenic | 0.5544 | ambiguous | -1.098 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.9872 | likely_pathogenic | 0.9674 | pathogenic | -2.037 | Highly Destabilizing | None | None | None | None | N | 0.467734976 | None | None | N |
| R/T | 0.9784 | likely_pathogenic | 0.9404 | pathogenic | -1.616 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.9682 | likely_pathogenic | 0.9358 | pathogenic | -0.902 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.909 | likely_pathogenic | 0.806 | pathogenic | -0.585 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.9673 | likely_pathogenic | 0.9339 | pathogenic | -0.373 | 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.