Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33817 | 101674;101675;101676 | chr2:178535166;178535165;178535164 | chr2:179399893;179399892;179399891 |
| N2AB | 32176 | 96751;96752;96753 | chr2:178535166;178535165;178535164 | chr2:179399893;179399892;179399891 |
| N2A | 31249 | 93970;93971;93972 | chr2:178535166;178535165;178535164 | chr2:179399893;179399892;179399891 |
| N2B | 24752 | 74479;74480;74481 | chr2:178535166;178535165;178535164 | chr2:179399893;179399892;179399891 |
| Novex-1 | 24877 | 74854;74855;74856 | chr2:178535166;178535165;178535164 | chr2:179399893;179399892;179399891 |
| Novex-2 | 24944 | 75055;75056;75057 | chr2:178535166;178535165;178535164 | chr2:179399893;179399892;179399891 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAG
- RefSeq wild type template codon: CTC
- Domain: Kinase-1
- Domain position: 5
- Q(SASA): 0.7439
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs771596824  |
0.625 | None | N | None | 0.105 | 0.137902524267 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11334E-04 | None | 6.54E-05 | None | 4.65E-05 | 0 | 1.65673E-04 |
| E/K | rs771596824 |
0.625 | None | N | None | 0.105 | 0.137902524267 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| E/K | rs771596824 |
0.625 | None | N | None | 0.105 | 0.137902524267 | gnomAD-4.0.0 | 1.05335E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.68539E-05 | None | 1.56304E-05 | 0 | 3.39026E-06 | 7.68521E-05 | 3.20092E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2057 | likely_benign | 0.2925 | benign | -0.302 | Destabilizing | None | None | None | None | N | 0.411246975 | None | None | N |
| E/C | 0.808 | likely_pathogenic | 0.8966 | pathogenic | -0.065 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1138 | likely_benign | 0.1695 | benign | -0.211 | Destabilizing | None | None | None | None | N | 0.408299884 | None | None | N |
| E/F | 0.835 | likely_pathogenic | 0.8952 | pathogenic | -0.166 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.1193 | likely_benign | 0.1764 | benign | -0.496 | Destabilizing | None | None | None | None | N | 0.408819959 | None | None | N |
| E/H | 0.4328 | ambiguous | 0.5588 | ambiguous | 0.136 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.5939 | likely_pathogenic | 0.6868 | pathogenic | 0.172 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.1614 | likely_benign | 0.1875 | benign | 0.32 | Stabilizing | None | None | None | None | N | 0.410033467 | None | None | N |
| E/L | 0.5328 | ambiguous | 0.6268 | pathogenic | 0.172 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.6298 | likely_pathogenic | 0.7155 | pathogenic | 0.192 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.2179 | likely_benign | 0.324 | benign | 0.031 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.548 | ambiguous | 0.7866 | pathogenic | 0.034 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.1478 | likely_benign | 0.1744 | benign | 0.077 | Stabilizing | None | None | None | None | N | 0.411073617 | None | None | N |
| E/R | 0.2392 | likely_benign | 0.2726 | benign | 0.556 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.1695 | likely_benign | 0.2647 | benign | -0.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.2733 | likely_benign | 0.3885 | ambiguous | 0.006 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.3912 | ambiguous | 0.5014 | ambiguous | 0.034 | Stabilizing | None | None | None | None | N | 0.412113767 | None | None | N |
| E/W | 0.8987 | likely_pathogenic | 0.9389 | pathogenic | -0.028 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.6917 | likely_pathogenic | 0.788 | pathogenic | 0.073 | Stabilizing | 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.