Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34130 | 102613;102614;102615 | chr2:178534227;178534226;178534225 | chr2:179398954;179398953;179398952 |
| N2AB | 32489 | 97690;97691;97692 | chr2:178534227;178534226;178534225 | chr2:179398954;179398953;179398952 |
| N2A | 31562 | 94909;94910;94911 | chr2:178534227;178534226;178534225 | chr2:179398954;179398953;179398952 |
| N2B | 25065 | 75418;75419;75420 | chr2:178534227;178534226;178534225 | chr2:179398954;179398953;179398952 |
| Novex-1 | 25190 | 75793;75794;75795 | chr2:178534227;178534226;178534225 | chr2:179398954;179398953;179398952 |
| Novex-2 | 25257 | 75994;75995;75996 | chr2:178534227;178534226;178534225 | chr2:179398954;179398953;179398952 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTG
- RefSeq wild type template codon: CAC
- Domain: Kinase-1
- Domain position: 318
- Q(SASA): 0.0912
- 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/G | None | None | None | N | None | 0.544 | 0.757478774972 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02334E-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 | 0.64 | likely_pathogenic | 0.5539 | ambiguous | -1.969 | Destabilizing | None | None | None | None | N | 0.446475136 | None | None | N |
| V/C | 0.9688 | likely_pathogenic | 0.9503 | pathogenic | -1.756 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9486 | likely_pathogenic | 0.9084 | pathogenic | -2.526 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.899 | likely_pathogenic | 0.8364 | pathogenic | -2.377 | Highly Destabilizing | None | None | None | None | N | 0.447688644 | None | None | N |
| V/F | 0.7104 | likely_pathogenic | 0.6539 | pathogenic | -1.213 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.7556 | likely_pathogenic | 0.6705 | pathogenic | -2.425 | Highly Destabilizing | None | None | None | None | N | 0.448208719 | None | None | N |
| V/H | 0.9791 | likely_pathogenic | 0.9642 | pathogenic | -2.034 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1312 | likely_benign | 0.1306 | benign | -0.732 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.9387 | likely_pathogenic | 0.8919 | pathogenic | -1.552 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6471 | likely_pathogenic | 0.5968 | pathogenic | -0.732 | Destabilizing | None | None | None | None | N | 0.446128419 | None | None | N |
| V/M | 0.592 | likely_pathogenic | 0.546 | ambiguous | -0.942 | Destabilizing | None | None | None | None | N | 0.447688644 | None | None | N |
| V/N | 0.9109 | likely_pathogenic | 0.8493 | pathogenic | -1.738 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9208 | likely_pathogenic | 0.8941 | pathogenic | -1.116 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9333 | likely_pathogenic | 0.9008 | pathogenic | -1.714 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9181 | likely_pathogenic | 0.8573 | pathogenic | -1.275 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8314 | likely_pathogenic | 0.7549 | pathogenic | -2.329 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.6765 | likely_pathogenic | 0.5704 | pathogenic | -2.053 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9905 | likely_pathogenic | 0.9861 | pathogenic | -1.607 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9481 | likely_pathogenic | 0.9176 | pathogenic | -1.264 | 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.