Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33935 | 102028;102029;102030 | chr2:178534812;178534811;178534810 | chr2:179399539;179399538;179399537 |
| N2AB | 32294 | 97105;97106;97107 | chr2:178534812;178534811;178534810 | chr2:179399539;179399538;179399537 |
| N2A | 31367 | 94324;94325;94326 | chr2:178534812;178534811;178534810 | chr2:179399539;179399538;179399537 |
| N2B | 24870 | 74833;74834;74835 | chr2:178534812;178534811;178534810 | chr2:179399539;179399538;179399537 |
| Novex-1 | 24995 | 75208;75209;75210 | chr2:178534812;178534811;178534810 | chr2:179399539;179399538;179399537 |
| Novex-2 | 25062 | 75409;75410;75411 | chr2:178534812;178534811;178534810 | chr2:179399539;179399538;179399537 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 123
- Q(SASA): 0.1209
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs76106451  |
-1.369 | None | D | None | 0.559 | None | gnomAD-2.1.1 | 2.16E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.69E-05 | 0 |
| I/M | rs76106451 |
-1.369 | None | D | None | 0.559 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/M | rs76106451 |
-1.369 | None | D | None | 0.559 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| I/M | rs76106451 |
-1.369 | None | D | None | 0.559 | None | gnomAD-4.0.0 | 1.24114E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69518E-05 | 0 | 0 |
| I/T | rs778304667 |
-2.897 | None | D | None | 0.69 | 0.802105621863 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/T | rs778304667 |
-2.897 | None | D | None | 0.69 | 0.802105621863 | gnomAD-4.0.0 | 1.37078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 0 | 0 |
| I/V | rs56376197 |
-1.77 | None | N | None | 0.085 | None | gnomAD-2.1.1 | 5.00068E-03 | None | None | None | None | N | None | 5.34853E-02 | 2.09667E-03 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 9.38E-05 | 2.25162E-03 |
| I/V | rs56376197 |
-1.77 | None | N | None | 0.085 | None | gnomAD-3.1.2 | 1.49078E-02 | None | None | None | None | N | None | 5.21859E-02 | 5.10672E-03 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 2.20452E-04 | 2.07211E-04 | 5.25813E-03 |
| I/V | rs56376197 |
-1.77 | None | N | None | 0.085 | None | 1000 genomes | 1.23802E-02 | None | None | None | None | N | None | 4.69E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/V | rs56376197 |
-1.77 | None | N | None | 0.085 | None | gnomAD-4.0.0 | 2.72457E-03 | None | None | None | None | N | None | 5.27094E-02 | 3.26601E-03 | None | 0 | 0 | None | 0 | 9.90426E-04 | 4.66173E-05 | 9.88142E-05 | 2.7053E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6473 | likely_pathogenic | 0.5874 | pathogenic | -2.819 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8961 | likely_pathogenic | 0.8934 | pathogenic | -2.111 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9773 | likely_pathogenic | 0.9672 | pathogenic | -3.427 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9471 | likely_pathogenic | 0.9293 | pathogenic | -3.205 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.3367 | likely_benign | 0.3094 | benign | -1.682 | Destabilizing | None | None | None | None | N | 0.516040214 | None | None | N |
| I/G | 0.9585 | likely_pathogenic | 0.9398 | pathogenic | -3.346 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.8986 | likely_pathogenic | 0.8733 | pathogenic | -2.79 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.891 | likely_pathogenic | 0.8573 | pathogenic | -2.256 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.252 | likely_benign | 0.2323 | benign | -1.282 | Destabilizing | None | None | None | None | D | 0.534931987 | None | None | N |
| I/M | 0.2275 | likely_benign | 0.2137 | benign | -1.255 | Destabilizing | None | None | None | None | D | 0.523993159 | None | None | N |
| I/N | 0.8509 | likely_pathogenic | 0.7997 | pathogenic | -2.644 | Highly Destabilizing | None | None | None | None | D | 0.556429461 | None | None | N |
| I/P | 0.9725 | likely_pathogenic | 0.9642 | pathogenic | -1.779 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9032 | likely_pathogenic | 0.8759 | pathogenic | -2.511 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8104 | likely_pathogenic | 0.7556 | pathogenic | -1.884 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.7737 | likely_pathogenic | 0.7126 | pathogenic | -3.271 | Highly Destabilizing | None | None | None | None | D | 0.544819666 | None | None | N |
| I/T | 0.4425 | ambiguous | 0.3571 | ambiguous | -2.917 | Highly Destabilizing | None | None | None | None | D | 0.537982811 | None | None | N |
| I/V | 0.1326 | likely_benign | 0.1137 | benign | -1.779 | Destabilizing | None | None | None | None | N | 0.483729589 | None | None | N |
| I/W | 0.9061 | likely_pathogenic | 0.9021 | pathogenic | -2.133 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.7153 | likely_pathogenic | 0.6755 | pathogenic | -1.897 | 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.