Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33917 | 101974;101975;101976 | chr2:178534866;178534865;178534864 | chr2:179399593;179399592;179399591 |
| N2AB | 32276 | 97051;97052;97053 | chr2:178534866;178534865;178534864 | chr2:179399593;179399592;179399591 |
| N2A | 31349 | 94270;94271;94272 | chr2:178534866;178534865;178534864 | chr2:179399593;179399592;179399591 |
| N2B | 24852 | 74779;74780;74781 | chr2:178534866;178534865;178534864 | chr2:179399593;179399592;179399591 |
| Novex-1 | 24977 | 75154;75155;75156 | chr2:178534866;178534865;178534864 | chr2:179399593;179399592;179399591 |
| Novex-2 | 25044 | 75355;75356;75357 | chr2:178534866;178534865;178534864 | chr2:179399593;179399592;179399591 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTA
- RefSeq wild type template codon: CAT
- Domain: Kinase-1
- Domain position: 105
- Q(SASA): 0.0823
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs768379988  |
-0.467 | None | N | None | 0.181 | 0.48447252604 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.59E-05 | 2.67E-05 | 0 |
| V/I | rs768379988 |
-0.467 | None | N | None | 0.181 | 0.48447252604 | 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 |
| V/I | rs768379988 |
-0.467 | None | N | None | 0.181 | 0.48447252604 | gnomAD-4.0.0 | 1.67863E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.11899E-05 | 0 | 3.20359E-05 |
| V/L | rs768379988 |
None | None | N | None | 0.226 | 0.651574910104 | gnomAD-4.0.0 | 6.86694E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65733E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4281 | ambiguous | 0.3435 | ambiguous | -1.883 | Destabilizing | None | None | None | None | N | 0.389448417 | None | None | N |
| V/C | 0.8661 | likely_pathogenic | 0.8376 | pathogenic | -1.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.8967 | likely_pathogenic | 0.8882 | pathogenic | -2.904 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.7255 | likely_pathogenic | 0.7111 | pathogenic | -2.636 | Highly Destabilizing | None | None | None | None | N | 0.495488472 | None | None | N |
| V/F | 0.5102 | ambiguous | 0.4719 | ambiguous | -1.22 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.6298 | likely_pathogenic | 0.5503 | ambiguous | -2.449 | Highly Destabilizing | None | None | None | None | N | 0.518356664 | None | None | N |
| V/H | 0.8718 | likely_pathogenic | 0.8591 | pathogenic | -2.575 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1342 | likely_benign | 0.1178 | benign | -0.28 | Destabilizing | None | None | None | None | N | 0.461964663 | None | None | N |
| V/K | 0.6719 | likely_pathogenic | 0.6771 | pathogenic | -1.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.4883 | ambiguous | 0.4255 | ambiguous | -0.28 | Destabilizing | None | None | None | None | N | 0.465311613 | None | None | N |
| V/M | 0.4627 | ambiguous | 0.3962 | ambiguous | -0.261 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.7745 | likely_pathogenic | 0.7506 | pathogenic | -2.211 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.971 | likely_pathogenic | 0.9678 | pathogenic | -0.79 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.6432 | likely_pathogenic | 0.6286 | pathogenic | -1.93 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.5237 | ambiguous | 0.5258 | ambiguous | -1.72 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.5489 | ambiguous | 0.4911 | ambiguous | -2.712 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.4178 | ambiguous | 0.3862 | ambiguous | -2.296 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9744 | likely_pathogenic | 0.968 | pathogenic | -1.94 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.8678 | likely_pathogenic | 0.85 | pathogenic | -1.451 | 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.