Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23143 | 69652;69653;69654 | chr2:178576817;178576816;178576815 | chr2:179441544;179441543;179441542 |
| N2AB | 21502 | 64729;64730;64731 | chr2:178576817;178576816;178576815 | chr2:179441544;179441543;179441542 |
| N2A | 20575 | 61948;61949;61950 | chr2:178576817;178576816;178576815 | chr2:179441544;179441543;179441542 |
| N2B | 14078 | 42457;42458;42459 | chr2:178576817;178576816;178576815 | chr2:179441544;179441543;179441542 |
| Novex-1 | 14203 | 42832;42833;42834 | chr2:178576817;178576816;178576815 | chr2:179441544;179441543;179441542 |
| Novex-2 | 14270 | 43033;43034;43035 | chr2:178576817;178576816;178576815 | chr2:179441544;179441543;179441542 |
| 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/L | rs1371049844  |
-0.715 | 1.0 | D | 0.892 | 0.706 | 0.922574051033 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/L | rs1371049844 |
-0.715 | 1.0 | D | 0.892 | 0.706 | 0.922574051033 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1371049844 |
-0.715 | 1.0 | D | 0.892 | 0.706 | 0.922574051033 | gnomAD-4.0.0 | 1.02744E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.91669E-05 | 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 | 0.5099 | ambiguous | 0.5536 | ambiguous | -2.134 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.587690439 | None | None | N |
| P/C | 0.7743 | likely_pathogenic | 0.774 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/D | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -3.215 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/E | 0.9966 | likely_pathogenic | 0.9972 | pathogenic | -3.069 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/F | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/G | 0.9709 | likely_pathogenic | 0.9748 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.9951 | likely_pathogenic | 0.9959 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.655391436 | None | None | N |
| P/I | 0.9595 | likely_pathogenic | 0.9582 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.8585 | likely_pathogenic | 0.8636 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.638736302 | None | None | N |
| P/M | 0.9725 | likely_pathogenic | 0.9718 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/N | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/Q | 0.99 | likely_pathogenic | 0.991 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/R | 0.9901 | likely_pathogenic | 0.9912 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.655189632 | None | None | N |
| P/S | 0.9283 | likely_pathogenic | 0.9426 | pathogenic | -2.656 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.61319819 | None | None | N |
| P/T | 0.8793 | likely_pathogenic | 0.8947 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.613399994 | None | None | N |
| P/V | 0.8289 | likely_pathogenic | 0.8176 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.901 | 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.