Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34014 | 102265;102266;102267 | chr2:178534575;178534574;178534573 | chr2:179399302;179399301;179399300 |
| N2AB | 32373 | 97342;97343;97344 | chr2:178534575;178534574;178534573 | chr2:179399302;179399301;179399300 |
| N2A | 31446 | 94561;94562;94563 | chr2:178534575;178534574;178534573 | chr2:179399302;179399301;179399300 |
| N2B | 24949 | 75070;75071;75072 | chr2:178534575;178534574;178534573 | chr2:179399302;179399301;179399300 |
| Novex-1 | 25074 | 75445;75446;75447 | chr2:178534575;178534574;178534573 | chr2:179399302;179399301;179399300 |
| Novex-2 | 25141 | 75646;75647;75648 | chr2:178534575;178534574;178534573 | chr2:179399302;179399301;179399300 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: P
- RefSeq wild type transcript codon: CCA
- RefSeq wild type template codon: GGT
- Domain: Kinase-1
- Domain position: 202
- Q(SASA): 0.0843
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1369028729  |
0.346 | None | N | None | 0.562 | 0.759869304651 | 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 |
| P/L | rs1369028729 |
0.346 | None | N | None | 0.562 | 0.759869304651 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs775271604 |
-2.597 | None | N | None | 0.59 | 0.462982567029 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/S | rs775271604 |
-2.597 | None | N | None | 0.59 | 0.462982567029 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 0 | 0 |
| P/T | rs775271604 |
-1.992 | None | D | None | 0.59 | 0.627667264971 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/T | rs775271604 |
-1.992 | None | D | None | 0.59 | 0.627667264971 | 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 |
| P/T | rs775271604 |
-1.992 | None | D | None | 0.59 | 0.627667264971 | gnomAD-4.0.0 | 1.48724E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22767E-05 | None | 0 | 0 | 1.69519E-05 | 0 | 4.80323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7284 | likely_pathogenic | 0.7162 | pathogenic | -1.714 | Destabilizing | None | None | None | None | N | 0.512505273 | None | None | N |
| P/C | 0.9762 | likely_pathogenic | 0.9762 | pathogenic | -0.965 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/D | 0.9895 | likely_pathogenic | 0.9901 | pathogenic | -2.82 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/E | 0.9729 | likely_pathogenic | 0.9756 | pathogenic | -2.511 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/F | 0.992 | likely_pathogenic | 0.9924 | pathogenic | -1.021 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/G | 0.9582 | likely_pathogenic | 0.9541 | pathogenic | -2.295 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/H | 0.9506 | likely_pathogenic | 0.9566 | pathogenic | -2.324 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/I | 0.9522 | likely_pathogenic | 0.9526 | pathogenic | -0.036 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/K | 0.9793 | likely_pathogenic | 0.9802 | pathogenic | -1.372 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/L | 0.8658 | likely_pathogenic | 0.8719 | pathogenic | -0.036 | Destabilizing | None | None | None | None | N | 0.481016797 | None | None | N |
| P/M | 0.975 | likely_pathogenic | 0.9745 | pathogenic | -0.128 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/N | 0.9847 | likely_pathogenic | 0.9863 | pathogenic | -2.079 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Q | 0.9466 | likely_pathogenic | 0.9571 | pathogenic | -1.718 | Destabilizing | None | None | None | None | D | 0.525382516 | None | None | N |
| P/R | 0.935 | likely_pathogenic | 0.9379 | pathogenic | -1.608 | Destabilizing | None | None | None | None | D | 0.532130465 | None | None | N |
| P/S | 0.9007 | likely_pathogenic | 0.9027 | pathogenic | -2.524 | Highly Destabilizing | None | None | None | None | N | 0.52052067 | None | None | N |
| P/T | 0.8715 | likely_pathogenic | 0.8727 | pathogenic | -2.054 | Highly Destabilizing | None | None | None | None | D | 0.531623486 | None | None | N |
| P/V | 0.8994 | likely_pathogenic | 0.8966 | pathogenic | -0.575 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/W | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -1.624 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Y | 0.9882 | likely_pathogenic | 0.989 | pathogenic | -1.167 | 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.