Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34116 | 102571;102572;102573 | chr2:178534269;178534268;178534267 | chr2:179398996;179398995;179398994 |
| N2AB | 32475 | 97648;97649;97650 | chr2:178534269;178534268;178534267 | chr2:179398996;179398995;179398994 |
| N2A | 31548 | 94867;94868;94869 | chr2:178534269;178534268;178534267 | chr2:179398996;179398995;179398994 |
| N2B | 25051 | 75376;75377;75378 | chr2:178534269;178534268;178534267 | chr2:179398996;179398995;179398994 |
| Novex-1 | 25176 | 75751;75752;75753 | chr2:178534269;178534268;178534267 | chr2:179398996;179398995;179398994 |
| Novex-2 | 25243 | 75952;75953;75954 | chr2:178534269;178534268;178534267 | chr2:179398996;179398995;179398994 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCA
- RefSeq wild type template codon: CGT
- Domain: Kinase-1
- Domain position: 304
- Q(SASA): 0.1353
- 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/T | None | None | None | N | None | 0.212 | 0.45746916685 | gnomAD-4.0.0 | 1.36834E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 8.99418E-07 | 0 | 0 |
| A/V | rs1690458726  |
None | None | N | None | 0.276 | 0.603901604079 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1690458726 |
None | None | N | None | 0.276 | 0.603901604079 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 2.41371E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7644 | likely_pathogenic | 0.676 | pathogenic | -1.425 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.8644 | likely_pathogenic | 0.7687 | pathogenic | -1.217 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.8173 | likely_pathogenic | 0.6901 | pathogenic | -1.235 | Destabilizing | None | None | None | None | N | 0.447688644 | None | None | N |
| A/F | 0.7581 | likely_pathogenic | 0.6517 | pathogenic | -1.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3267 | likely_benign | 0.2275 | benign | -1.307 | Destabilizing | None | None | None | None | N | 0.448382077 | None | None | N |
| A/H | 0.8693 | likely_pathogenic | 0.7878 | pathogenic | -1.227 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.743 | likely_pathogenic | 0.7188 | pathogenic | -0.512 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9163 | likely_pathogenic | 0.8461 | pathogenic | -1.136 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.5675 | likely_pathogenic | 0.5051 | ambiguous | -0.512 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.6559 | likely_pathogenic | 0.5988 | pathogenic | -0.632 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.6886 | likely_pathogenic | 0.6078 | pathogenic | -0.985 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.6503 | likely_pathogenic | 0.5406 | ambiguous | -0.653 | Destabilizing | None | None | None | None | N | 0.448728794 | None | None | N |
| A/Q | 0.7556 | likely_pathogenic | 0.664 | pathogenic | -1.167 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.8233 | likely_pathogenic | 0.7103 | pathogenic | -0.797 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1534 | likely_benign | 0.1391 | benign | -1.436 | Destabilizing | None | None | None | None | N | 0.428236092 | None | None | N |
| A/T | 0.3147 | likely_benign | 0.2821 | benign | -1.35 | Destabilizing | None | None | None | None | N | 0.447688644 | None | None | N |
| A/V | 0.472 | ambiguous | 0.4284 | ambiguous | -0.653 | Destabilizing | None | None | None | None | N | 0.446995211 | None | None | N |
| A/W | 0.9612 | likely_pathogenic | 0.9192 | pathogenic | -1.382 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.8642 | likely_pathogenic | 0.786 | pathogenic | -0.995 | 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.