Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33889 | 101890;101891;101892 | chr2:178534950;178534949;178534948 | chr2:179399677;179399676;179399675 |
| N2AB | 32248 | 96967;96968;96969 | chr2:178534950;178534949;178534948 | chr2:179399677;179399676;179399675 |
| N2A | 31321 | 94186;94187;94188 | chr2:178534950;178534949;178534948 | chr2:179399677;179399676;179399675 |
| N2B | 24824 | 74695;74696;74697 | chr2:178534950;178534949;178534948 | chr2:179399677;179399676;179399675 |
| Novex-1 | 24949 | 75070;75071;75072 | chr2:178534950;178534949;178534948 | chr2:179399677;179399676;179399675 |
| Novex-2 | 25016 | 75271;75272;75273 | chr2:178534950;178534949;178534948 | chr2:179399677;179399676;179399675 |
| 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: 77
- Q(SASA): 0.0787
- 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 | rs34924609  |
-0.515 | None | N | None | 0.06 | None | gnomAD-2.1.1 | 3.11952E-03 | None | None | None | None | N | None | 1.2408E-03 | 7.08898E-04 | None | 0 | 0 | None | 2.94272E-04 | None | 1.0689E-03 | 5.9722E-03 | 2.39437E-03 |
| V/I | rs34924609 |
-0.515 | None | N | None | 0.06 | None | gnomAD-3.1.2 | 3.52187E-03 | None | None | None | None | N | None | 1.13362E-03 | 8.50785E-04 | 0 | 0 | 0 | None | 8.48896E-04 | 0 | 6.74702E-03 | 6.20347E-04 | 2.39006E-03 |
| V/I | rs34924609 |
-0.515 | None | N | None | 0.06 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 6E-03 | None | None | None | 0 | None |
| V/I | rs34924609 |
-0.515 | None | N | None | 0.06 | None | gnomAD-4.0.0 | 5.39094E-03 | None | None | None | None | N | None | 1.17286E-03 | 7.502E-04 | None | 3.37906E-05 | 0 | None | 1.69798E-03 | 1.64962E-04 | 6.93139E-03 | 3.40353E-04 | 3.90687E-03 |
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 | 0.7416 | likely_pathogenic | 0.6836 | pathogenic | -1.735 | Destabilizing | None | None | None | None | N | 0.507290655 | None | None | N |
| V/C | 0.9209 | likely_pathogenic | 0.9067 | pathogenic | -1.157 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9839 | likely_pathogenic | 0.9755 | pathogenic | -2.285 | Highly Destabilizing | None | None | None | None | N | 0.476215906 | None | None | N |
| V/E | 0.9559 | likely_pathogenic | 0.9329 | pathogenic | -2.024 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.8242 | likely_pathogenic | 0.7885 | pathogenic | -0.982 | Destabilizing | None | None | None | None | N | 0.448050351 | None | None | N |
| V/G | 0.8547 | likely_pathogenic | 0.8019 | pathogenic | -2.313 | Highly Destabilizing | None | None | None | None | N | 0.46098526 | None | None | N |
| V/H | 0.9847 | likely_pathogenic | 0.9767 | pathogenic | -2.214 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1552 | likely_benign | 0.1611 | benign | -0.107 | Destabilizing | None | None | None | None | N | 0.486107306 | None | None | N |
| V/K | 0.9715 | likely_pathogenic | 0.9545 | pathogenic | -1.338 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6884 | likely_pathogenic | 0.6507 | pathogenic | -0.107 | Destabilizing | None | None | None | None | N | 0.481661492 | None | None | N |
| V/M | 0.7288 | likely_pathogenic | 0.6815 | pathogenic | -0.169 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.951 | likely_pathogenic | 0.9344 | pathogenic | -1.778 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9877 | likely_pathogenic | 0.9839 | pathogenic | -0.623 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9501 | likely_pathogenic | 0.9218 | pathogenic | -1.518 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9518 | likely_pathogenic | 0.9213 | pathogenic | -1.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8667 | likely_pathogenic | 0.8174 | pathogenic | -2.396 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.7326 | likely_pathogenic | 0.6808 | pathogenic | -1.974 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9956 | likely_pathogenic | 0.9939 | pathogenic | -1.567 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9709 | likely_pathogenic | 0.9628 | pathogenic | -1.097 | 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.