Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33850 | 101773;101774;101775 | chr2:178535067;178535066;178535065 | chr2:179399794;179399793;179399792 |
| N2AB | 32209 | 96850;96851;96852 | chr2:178535067;178535066;178535065 | chr2:179399794;179399793;179399792 |
| N2A | 31282 | 94069;94070;94071 | chr2:178535067;178535066;178535065 | chr2:179399794;179399793;179399792 |
| N2B | 24785 | 74578;74579;74580 | chr2:178535067;178535066;178535065 | chr2:179399794;179399793;179399792 |
| Novex-1 | 24910 | 74953;74954;74955 | chr2:178535067;178535066;178535065 | chr2:179399794;179399793;179399792 |
| Novex-2 | 24977 | 75154;75155;75156 | chr2:178535067;178535066;178535065 | chr2:179399794;179399793;179399792 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTT
- RefSeq wild type template codon: CAA
- Domain: Kinase-1
- Domain position: 38
- Q(SASA): 0.1276
- 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/D | None | None | None | D | None | 0.68 | 0.866035641657 | gnomAD-4.0.0 | 6.84178E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99416E-07 | 0 | 0 |
| V/G | None | None | None | N | None | 0.675 | 0.903572047699 | gnomAD-4.0.0 | 6.84178E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1176483211  |
None | None | N | None | 0.121 | 0.358540694251 | 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 | rs1176483211 |
None | None | N | None | 0.121 | 0.358540694251 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47011E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8356 | likely_pathogenic | 0.7542 | pathogenic | -2.058 | Highly Destabilizing | None | None | None | None | N | 0.521495756 | None | None | N |
| V/C | 0.9106 | likely_pathogenic | 0.8861 | pathogenic | -1.543 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9912 | likely_pathogenic | 0.9835 | pathogenic | -2.446 | Highly Destabilizing | None | None | None | None | D | 0.537428001 | None | None | N |
| V/E | 0.9677 | likely_pathogenic | 0.9421 | pathogenic | -2.288 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.7275 | likely_pathogenic | 0.6767 | pathogenic | -1.257 | Destabilizing | None | None | None | None | N | 0.48678575 | None | None | N |
| V/G | 0.9162 | likely_pathogenic | 0.8601 | pathogenic | -2.546 | Highly Destabilizing | None | None | None | None | N | 0.493254108 | None | None | N |
| V/H | 0.9846 | likely_pathogenic | 0.9718 | pathogenic | -2.206 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1157 | likely_benign | 0.1295 | benign | -0.73 | Destabilizing | None | None | None | None | N | 0.403340434 | None | None | N |
| V/K | 0.9709 | likely_pathogenic | 0.9439 | pathogenic | -1.901 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.5397 | ambiguous | 0.5171 | ambiguous | -0.73 | Destabilizing | None | None | None | None | N | 0.449342082 | None | None | N |
| V/M | 0.566 | likely_pathogenic | 0.5492 | ambiguous | -0.647 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9647 | likely_pathogenic | 0.9488 | pathogenic | -2.015 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.994 | likely_pathogenic | 0.9911 | pathogenic | -1.143 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9457 | likely_pathogenic | 0.8969 | pathogenic | -1.963 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9434 | likely_pathogenic | 0.8919 | pathogenic | -1.549 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8945 | likely_pathogenic | 0.8378 | pathogenic | -2.618 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.8015 | likely_pathogenic | 0.7271 | pathogenic | -2.328 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.993 | likely_pathogenic | 0.9883 | pathogenic | -1.706 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9683 | likely_pathogenic | 0.9538 | pathogenic | -1.362 | 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.