Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33870 | 101833;101834;101835 | chr2:178535007;178535006;178535005 | chr2:179399734;179399733;179399732 |
| N2AB | 32229 | 96910;96911;96912 | chr2:178535007;178535006;178535005 | chr2:179399734;179399733;179399732 |
| N2A | 31302 | 94129;94130;94131 | chr2:178535007;178535006;178535005 | chr2:179399734;179399733;179399732 |
| N2B | 24805 | 74638;74639;74640 | chr2:178535007;178535006;178535005 | chr2:179399734;179399733;179399732 |
| Novex-1 | 24930 | 75013;75014;75015 | chr2:178535007;178535006;178535005 | chr2:179399734;179399733;179399732 |
| Novex-2 | 24997 | 75214;75215;75216 | chr2:178535007;178535006;178535005 | chr2:179399734;179399733;179399732 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCT
- RefSeq wild type template codon: CGA
- Domain: Kinase-1
- Domain position: 58
- Q(SASA): 0.1496
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs935055445  |
-1.948 | None | N | None | 0.301 | 0.361758802978 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/G | rs935055445 |
-1.948 | None | N | None | 0.301 | 0.361758802978 | gnomAD-4.0.0 | 4.78957E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29596E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5938 | likely_pathogenic | 0.6046 | pathogenic | -0.507 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9571 | likely_pathogenic | 0.9579 | pathogenic | -2.241 | Highly Destabilizing | None | None | None | None | N | 0.511316048 | None | None | N |
| A/E | 0.9232 | likely_pathogenic | 0.9146 | pathogenic | -1.948 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.8345 | likely_pathogenic | 0.7903 | pathogenic | -0.393 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3588 | ambiguous | 0.3535 | ambiguous | -1.239 | Destabilizing | None | None | None | None | N | 0.449190154 | None | None | N |
| A/H | 0.9446 | likely_pathogenic | 0.9369 | pathogenic | -1.944 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7555 | likely_pathogenic | 0.6821 | pathogenic | 0.837 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9713 | likely_pathogenic | 0.9672 | pathogenic | -0.745 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.5204 | ambiguous | 0.4346 | ambiguous | 0.837 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.6958 | likely_pathogenic | 0.6338 | pathogenic | 0.502 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.8947 | likely_pathogenic | 0.8965 | pathogenic | -1.313 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9207 | likely_pathogenic | 0.9015 | pathogenic | 0.37 | Stabilizing | None | None | None | None | N | 0.481513216 | None | None | N |
| A/Q | 0.8803 | likely_pathogenic | 0.8672 | pathogenic | -0.934 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9328 | likely_pathogenic | 0.9175 | pathogenic | -1.227 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1813 | likely_benign | 0.2095 | benign | -1.654 | Destabilizing | None | None | None | None | N | 0.441781392 | None | None | N |
| A/T | 0.3569 | ambiguous | 0.3439 | ambiguous | -1.208 | Destabilizing | None | None | None | None | N | 0.457750922 | None | None | N |
| A/V | 0.4823 | ambiguous | 0.4193 | ambiguous | 0.37 | Stabilizing | None | None | None | None | N | 0.41139977 | None | None | N |
| A/W | 0.976 | likely_pathogenic | 0.9675 | pathogenic | -1.297 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9264 | likely_pathogenic | 0.913 | pathogenic | -0.609 | 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.