Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34122 | 102589;102590;102591 | chr2:178534251;178534250;178534249 | chr2:179398978;179398977;179398976 |
| N2AB | 32481 | 97666;97667;97668 | chr2:178534251;178534250;178534249 | chr2:179398978;179398977;179398976 |
| N2A | 31554 | 94885;94886;94887 | chr2:178534251;178534250;178534249 | chr2:179398978;179398977;179398976 |
| N2B | 25057 | 75394;75395;75396 | chr2:178534251;178534250;178534249 | chr2:179398978;179398977;179398976 |
| Novex-1 | 25182 | 75769;75770;75771 | chr2:178534251;178534250;178534249 | chr2:179398978;179398977;179398976 |
| Novex-2 | 25249 | 75970;75971;75972 | chr2:178534251;178534250;178534249 | chr2:179398978;179398977;179398976 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGA
- RefSeq wild type template codon: CCT
- Domain: Kinase-1
- Domain position: 310
- Q(SASA): 0.4098
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | None | N | None | 0.259 | 0.291694819147 | gnomAD-4.0.0 | 1.59098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8577E-06 | 0 | 0 |
| G/R | rs1195753595  |
-0.254 | None | N | None | 0.382 | 0.612054658674 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1195753595 |
-0.254 | None | N | None | 0.382 | 0.612054658674 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3087 | likely_benign | 0.3271 | benign | -0.303 | Destabilizing | None | None | None | None | N | 0.457692207 | None | None | N |
| G/C | 0.6134 | likely_pathogenic | 0.5869 | pathogenic | -1.028 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.5575 | ambiguous | 0.4277 | ambiguous | -0.446 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.6226 | likely_pathogenic | 0.4812 | ambiguous | -0.595 | Destabilizing | None | None | None | None | N | 0.457692207 | None | None | N |
| G/F | 0.871 | likely_pathogenic | 0.8424 | pathogenic | -1.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.8185 | likely_pathogenic | 0.7406 | pathogenic | -0.398 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.6259 | likely_pathogenic | 0.5869 | pathogenic | -0.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.8683 | likely_pathogenic | 0.7385 | pathogenic | -0.687 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.7855 | likely_pathogenic | 0.7706 | pathogenic | -0.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.7637 | likely_pathogenic | 0.7284 | pathogenic | -0.706 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.4879 | ambiguous | 0.4246 | ambiguous | -0.447 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9422 | likely_pathogenic | 0.944 | pathogenic | -0.435 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.761 | likely_pathogenic | 0.6624 | pathogenic | -0.673 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.8078 | likely_pathogenic | 0.6677 | pathogenic | -0.323 | Destabilizing | None | None | None | None | N | 0.458038924 | None | None | N |
| G/S | 0.2504 | likely_benign | 0.2492 | benign | -0.607 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.3891 | ambiguous | 0.3772 | ambiguous | -0.686 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.4859 | ambiguous | 0.4639 | ambiguous | -0.435 | Destabilizing | None | None | None | None | N | 0.45838564 | None | None | N |
| G/W | 0.8242 | likely_pathogenic | 0.7358 | pathogenic | -1.112 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.7756 | likely_pathogenic | 0.707 | pathogenic | -0.813 | 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.