Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33854 | 101785;101786;101787 | chr2:178535055;178535054;178535053 | chr2:179399782;179399781;179399780 |
| N2AB | 32213 | 96862;96863;96864 | chr2:178535055;178535054;178535053 | chr2:179399782;179399781;179399780 |
| N2A | 31286 | 94081;94082;94083 | chr2:178535055;178535054;178535053 | chr2:179399782;179399781;179399780 |
| N2B | 24789 | 74590;74591;74592 | chr2:178535055;178535054;178535053 | chr2:179399782;179399781;179399780 |
| Novex-1 | 24914 | 74965;74966;74967 | chr2:178535055;178535054;178535053 | chr2:179399782;179399781;179399780 |
| Novex-2 | 24981 | 75166;75167;75168 | chr2:178535055;178535054;178535053 | chr2:179399782;179399781;179399780 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGG
- RefSeq wild type template codon: CCC
- Domain: Kinase-1
- Domain position: 42
- Q(SASA): 0.3629
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | None | N | None | 0.601 | 0.616200100714 | gnomAD-4.0.0 | 6.84185E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6074 | likely_pathogenic | 0.5875 | pathogenic | -0.211 | Destabilizing | None | None | None | None | N | 0.455249335 | None | None | N |
| G/C | 0.8715 | likely_pathogenic | 0.8394 | pathogenic | -0.886 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.8514 | likely_pathogenic | 0.7503 | pathogenic | -0.588 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.9006 | likely_pathogenic | 0.8389 | pathogenic | -0.754 | Destabilizing | None | None | None | None | N | 0.451995599 | None | None | N |
| G/F | 0.9763 | likely_pathogenic | 0.9699 | pathogenic | -0.952 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9681 | likely_pathogenic | 0.9482 | pathogenic | -0.378 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9457 | likely_pathogenic | 0.9347 | pathogenic | -0.4 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9724 | likely_pathogenic | 0.9548 | pathogenic | -0.769 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9561 | likely_pathogenic | 0.9473 | pathogenic | -0.4 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9616 | likely_pathogenic | 0.9486 | pathogenic | -0.497 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.8741 | likely_pathogenic | 0.7987 | pathogenic | -0.425 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9903 | likely_pathogenic | 0.9841 | pathogenic | -0.306 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9512 | likely_pathogenic | 0.9223 | pathogenic | -0.715 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9528 | likely_pathogenic | 0.929 | pathogenic | -0.3 | Destabilizing | None | None | None | None | N | 0.456249412 | None | None | N |
| G/S | 0.609 | likely_pathogenic | 0.5068 | ambiguous | -0.559 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.8328 | likely_pathogenic | 0.7778 | pathogenic | -0.658 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.8782 | likely_pathogenic | 0.8595 | pathogenic | -0.306 | Destabilizing | None | None | None | None | N | 0.47435517 | None | None | N |
| G/W | 0.9656 | likely_pathogenic | 0.9435 | pathogenic | -1.092 | Destabilizing | None | None | None | None | D | 0.525053349 | None | None | N |
| G/Y | 0.9583 | likely_pathogenic | 0.9373 | pathogenic | -0.753 | 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.