Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33879 | 101860;101861;101862 | chr2:178534980;178534979;178534978 | chr2:179399707;179399706;179399705 |
| N2AB | 32238 | 96937;96938;96939 | chr2:178534980;178534979;178534978 | chr2:179399707;179399706;179399705 |
| N2A | 31311 | 94156;94157;94158 | chr2:178534980;178534979;178534978 | chr2:179399707;179399706;179399705 |
| N2B | 24814 | 74665;74666;74667 | chr2:178534980;178534979;178534978 | chr2:179399707;179399706;179399705 |
| Novex-1 | 24939 | 75040;75041;75042 | chr2:178534980;178534979;178534978 | chr2:179399707;179399706;179399705 |
| Novex-2 | 25006 | 75241;75242;75243 | chr2:178534980;178534979;178534978 | chr2:179399707;179399706;179399705 |
| 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: 67
- Q(SASA): 0.2045
- 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/R | rs762414833  |
-1.339 | None | N | None | 0.519 | 0.273503213844 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| H/R | rs762414833 |
-1.339 | None | N | None | 0.519 | 0.273503213844 | gnomAD-4.0.0 | 4.10608E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 0 | 4.49736E-06 | 0 | 0 |
| H/Y | rs1247427318 |
0.571 | None | N | None | 0.445 | 0.225902525712 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| H/Y | rs1247427318 |
0.571 | None | N | None | 0.445 | 0.225902525712 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| H/Y | rs1247427318 |
0.571 | None | N | None | 0.445 | 0.225902525712 | gnomAD-4.0.0 | 6.40828E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19649E-05 | 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 | 0.7973 | likely_pathogenic | 0.808 | pathogenic | -1.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.5439 | ambiguous | 0.5613 | ambiguous | -0.146 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.7329 | likely_pathogenic | 0.743 | pathogenic | -1.55 | Destabilizing | None | None | None | None | N | 0.457110919 | None | None | N |
| H/E | 0.7235 | likely_pathogenic | 0.7338 | pathogenic | -1.411 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.666 | likely_pathogenic | 0.675 | pathogenic | 0.526 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.8339 | likely_pathogenic | 0.8448 | pathogenic | -1.478 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.8391 | likely_pathogenic | 0.8506 | pathogenic | 0.013 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.6402 | likely_pathogenic | 0.6369 | pathogenic | -0.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.4722 | ambiguous | 0.4783 | ambiguous | 0.013 | Stabilizing | None | None | None | None | N | 0.431808675 | None | None | N |
| H/M | 0.8744 | likely_pathogenic | 0.8805 | pathogenic | -0.19 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.4072 | ambiguous | 0.4164 | ambiguous | -1.079 | Destabilizing | None | None | None | None | N | 0.452502563 | None | None | N |
| H/P | 0.674 | likely_pathogenic | 0.7201 | pathogenic | -0.341 | Destabilizing | None | None | None | None | N | 0.460238018 | None | None | N |
| H/Q | 0.551 | ambiguous | 0.5561 | ambiguous | -0.832 | Destabilizing | None | None | None | None | N | 0.488320892 | None | None | N |
| H/R | 0.3566 | ambiguous | 0.3615 | ambiguous | -1.202 | Destabilizing | None | None | None | None | N | 0.480528128 | None | None | N |
| H/S | 0.6707 | likely_pathogenic | 0.6856 | pathogenic | -0.926 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.8196 | likely_pathogenic | 0.8247 | pathogenic | -0.674 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.7654 | likely_pathogenic | 0.7738 | pathogenic | -0.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.6364 | likely_pathogenic | 0.6584 | pathogenic | 0.946 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.2659 | likely_benign | 0.2709 | benign | 0.805 | Stabilizing | None | None | None | None | N | 0.431520673 | 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.