Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17552 | 52879;52880;52881 | chr2:178608229;178608228;178608227 | chr2:179472956;179472955;179472954 |
| N2AB | 15911 | 47956;47957;47958 | chr2:178608229;178608228;178608227 | chr2:179472956;179472955;179472954 |
| N2A | 14984 | 45175;45176;45177 | chr2:178608229;178608228;178608227 | chr2:179472956;179472955;179472954 |
| N2B | 8487 | 25684;25685;25686 | chr2:178608229;178608228;178608227 | chr2:179472956;179472955;179472954 |
| Novex-1 | 8612 | 26059;26060;26061 | chr2:178608229;178608228;178608227 | chr2:179472956;179472955;179472954 |
| Novex-2 | 8679 | 26260;26261;26262 | chr2:178608229;178608228;178608227 | chr2:179472956;179472955;179472954 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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/S | rs1266887478  |
-0.873 | 1.0 | N | 0.78 | 0.351 | 0.220303561663 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 2.96E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1266887478 |
-0.873 | 1.0 | N | 0.78 | 0.351 | 0.220303561663 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1266887478 |
-0.873 | 1.0 | N | 0.78 | 0.351 | 0.220303561663 | gnomAD-4.0.0 | 2.58685E-06 | None | None | None | None | N | None | 1.69895E-05 | 1.71133E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1305 | likely_benign | 0.1231 | benign | -1.459 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.455715402 | None | None | N |
| P/C | 0.6402 | likely_pathogenic | 0.647 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/D | 0.9134 | likely_pathogenic | 0.8781 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/E | 0.6794 | likely_pathogenic | 0.5952 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/F | 0.7391 | likely_pathogenic | 0.7111 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/G | 0.735 | likely_pathogenic | 0.6791 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/H | 0.556 | ambiguous | 0.4943 | ambiguous | -1.269 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.518708088 | None | None | N |
| P/I | 0.315 | likely_benign | 0.3353 | benign | -0.812 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/K | 0.6591 | likely_pathogenic | 0.6015 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/L | 0.2155 | likely_benign | 0.2043 | benign | -0.812 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.439668515 | None | None | N |
| P/M | 0.4376 | ambiguous | 0.4221 | ambiguous | -0.489 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/N | 0.7739 | likely_pathogenic | 0.7471 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/Q | 0.424 | ambiguous | 0.3625 | ambiguous | -1.129 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/R | 0.4973 | ambiguous | 0.4224 | ambiguous | -0.564 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.464316243 | None | None | N |
| P/S | 0.4194 | ambiguous | 0.388 | ambiguous | -1.32 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.481131135 | None | None | N |
| P/T | 0.2461 | likely_benign | 0.2281 | benign | -1.265 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.448616072 | None | None | N |
| P/V | 0.2384 | likely_benign | 0.2413 | benign | -0.993 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/W | 0.9022 | likely_pathogenic | 0.863 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/Y | 0.762 | likely_pathogenic | 0.7228 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.793 | deleterious | 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.