Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33885 | 101878;101879;101880 | chr2:178534962;178534961;178534960 | chr2:179399689;179399688;179399687 |
| N2AB | 32244 | 96955;96956;96957 | chr2:178534962;178534961;178534960 | chr2:179399689;179399688;179399687 |
| N2A | 31317 | 94174;94175;94176 | chr2:178534962;178534961;178534960 | chr2:179399689;179399688;179399687 |
| N2B | 24820 | 74683;74684;74685 | chr2:178534962;178534961;178534960 | chr2:179399689;179399688;179399687 |
| Novex-1 | 24945 | 75058;75059;75060 | chr2:178534962;178534961;178534960 | chr2:179399689;179399688;179399687 |
| Novex-2 | 25012 | 75259;75260;75261 | chr2:178534962;178534961;178534960 | chr2:179399689;179399688;179399687 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 73
- Q(SASA): 0.5816
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs777177959  |
0.331 | None | N | None | 0.1 | 0.353761421236 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| M/I | rs777177959 |
0.331 | None | N | None | 0.1 | 0.353761421236 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/I | rs777177959 |
0.331 | None | N | None | 0.1 | 0.353761421236 | gnomAD-4.0.0 | 1.42606E-05 | None | None | None | None | N | None | 1.33501E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78009E-05 | 0 | 1.60164E-05 |
| M/T | None | None | None | N | None | 0.205 | 0.399740851666 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.338 | likely_benign | 0.358 | ambiguous | -0.109 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.7891 | likely_pathogenic | 0.798 | pathogenic | -0.229 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.7681 | likely_pathogenic | 0.8116 | pathogenic | 0.415 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.4852 | ambiguous | 0.5403 | ambiguous | 0.343 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.4798 | ambiguous | 0.4925 | ambiguous | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.5997 | likely_pathogenic | 0.6359 | pathogenic | -0.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.6123 | likely_pathogenic | 0.6494 | pathogenic | 0.476 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.354 | ambiguous | 0.4001 | ambiguous | 0.052 | Stabilizing | None | None | None | None | N | 0.422365259 | None | None | N |
| M/K | 0.2069 | likely_benign | 0.2395 | benign | 0.593 | Stabilizing | None | None | None | None | N | 0.342093534 | None | None | N |
| M/L | 0.1065 | likely_benign | 0.1161 | benign | 0.052 | Stabilizing | None | None | None | None | N | 0.411148188 | None | None | N |
| M/N | 0.5298 | ambiguous | 0.5943 | pathogenic | 0.737 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.4684 | ambiguous | 0.4488 | ambiguous | 0.024 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.2833 | likely_benign | 0.2989 | benign | 0.555 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.2506 | likely_benign | 0.2796 | benign | 1.042 | Stabilizing | None | None | None | None | N | 0.372320441 | None | None | N |
| M/S | 0.4238 | ambiguous | 0.4622 | ambiguous | 0.333 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.2074 | likely_benign | 0.2364 | benign | 0.352 | Stabilizing | None | None | None | None | N | 0.392946429 | None | None | N |
| M/V | 0.0945 | likely_benign | 0.0988 | benign | 0.024 | Stabilizing | None | None | None | None | N | 0.418959595 | None | None | N |
| M/W | 0.7098 | likely_pathogenic | 0.7307 | pathogenic | -0.089 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.7124 | likely_pathogenic | 0.7351 | pathogenic | 0.128 | Stabilizing | 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.