Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33872 | 101839;101840;101841 | chr2:178535001;178535000;178534999 | chr2:179399728;179399727;179399726 |
| N2AB | 32231 | 96916;96917;96918 | chr2:178535001;178535000;178534999 | chr2:179399728;179399727;179399726 |
| N2A | 31304 | 94135;94136;94137 | chr2:178535001;178535000;178534999 | chr2:179399728;179399727;179399726 |
| N2B | 24807 | 74644;74645;74646 | chr2:178535001;178535000;178534999 | chr2:179399728;179399727;179399726 |
| Novex-1 | 24932 | 75019;75020;75021 | chr2:178535001;178535000;178534999 | chr2:179399728;179399727;179399726 |
| Novex-2 | 24999 | 75220;75221;75222 | chr2:178535001;178535000;178534999 | chr2:179399728;179399727;179399726 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAT
- RefSeq wild type template codon: GTA
- Domain: Kinase-1
- Domain position: 60
- Q(SASA): 0.1621
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | rs1690791818  |
None | None | D | None | 0.723 | 0.607712899437 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 5.65611E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs1275685669 |
-0.527 | None | D | None | 0.732 | 0.647084603319 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs1275685669 |
-0.527 | None | D | None | 0.732 | 0.647084603319 | gnomAD-4.0.0 | 6.84242E-07 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | None | None | None | D | None | 0.846 | 0.638677787521 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9664 | likely_pathogenic | 0.9218 | pathogenic | -0.847 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.7415 | likely_pathogenic | 0.6453 | pathogenic | 0.051 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.8906 | likely_pathogenic | 0.738 | pathogenic | -0.782 | Destabilizing | None | None | None | None | D | 0.601489953 | None | None | N |
| H/E | 0.9379 | likely_pathogenic | 0.8579 | pathogenic | -0.659 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.9122 | likely_pathogenic | 0.8409 | pathogenic | 0.591 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.9548 | likely_pathogenic | 0.8806 | pathogenic | -1.237 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.9779 | likely_pathogenic | 0.9515 | pathogenic | 0.249 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.9395 | likely_pathogenic | 0.8598 | pathogenic | -0.608 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.8319 | likely_pathogenic | 0.723 | pathogenic | 0.249 | Stabilizing | None | None | None | None | D | 0.617509314 | None | None | N |
| H/M | 0.9701 | likely_pathogenic | 0.9478 | pathogenic | 0.091 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.6656 | likely_pathogenic | 0.4272 | ambiguous | -0.855 | Destabilizing | None | None | None | None | D | 0.562021962 | None | None | N |
| H/P | 0.8732 | likely_pathogenic | 0.7016 | pathogenic | -0.097 | Destabilizing | None | None | None | None | D | 0.617711118 | None | None | N |
| H/Q | 0.9025 | likely_pathogenic | 0.7986 | pathogenic | -0.565 | Destabilizing | None | None | None | None | D | 0.596382331 | None | None | N |
| H/R | 0.8897 | likely_pathogenic | 0.7456 | pathogenic | -1.171 | Destabilizing | None | None | None | None | D | 0.596382331 | None | None | N |
| H/S | 0.8995 | likely_pathogenic | 0.7688 | pathogenic | -0.813 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.9684 | likely_pathogenic | 0.9151 | pathogenic | -0.582 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.9718 | likely_pathogenic | 0.9341 | pathogenic | -0.097 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.8999 | likely_pathogenic | 0.8513 | pathogenic | 0.928 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.6563 | likely_pathogenic | 0.4633 | ambiguous | 0.937 | Stabilizing | None | None | None | None | D | 0.601893561 | 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.