Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24269 | 73030;73031;73032 | chr2:178573327;178573326;178573325 | chr2:179438054;179438053;179438052 |
| N2AB | 22628 | 68107;68108;68109 | chr2:178573327;178573326;178573325 | chr2:179438054;179438053;179438052 |
| N2A | 21701 | 65326;65327;65328 | chr2:178573327;178573326;178573325 | chr2:179438054;179438053;179438052 |
| N2B | 15204 | 45835;45836;45837 | chr2:178573327;178573326;178573325 | chr2:179438054;179438053;179438052 |
| Novex-1 | 15329 | 46210;46211;46212 | chr2:178573327;178573326;178573325 | chr2:179438054;179438053;179438052 |
| Novex-2 | 15396 | 46411;46412;46413 | chr2:178573327;178573326;178573325 | chr2:179438054;179438053;179438052 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs879125672  |
-3.305 | 1.0 | D | 0.661 | 0.611 | None | gnomAD-2.1.1 | 5.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.06E-05 | 0 |
| W/G | rs879125672 |
-3.305 | 1.0 | D | 0.661 | 0.611 | None | gnomAD-4.0.0 | 1.75989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.10916E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9955 | likely_pathogenic | 0.9928 | pathogenic | -2.927 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/C | 0.9979 | likely_pathogenic | 0.9961 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.516932137 | None | None | N |
| W/D | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/F | 0.6963 | likely_pathogenic | 0.6814 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| W/G | 0.9857 | likely_pathogenic | 0.9775 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.539048863 | None | None | N |
| W/H | 0.9933 | likely_pathogenic | 0.991 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| W/I | 0.9931 | likely_pathogenic | 0.9872 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/L | 0.9762 | likely_pathogenic | 0.965 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.528627156 | None | None | N |
| W/M | 0.9936 | likely_pathogenic | 0.9896 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| W/N | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/P | 0.9976 | likely_pathogenic | 0.9952 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.538795374 | None | None | N |
| W/S | 0.9918 | likely_pathogenic | 0.9875 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.533515455 | None | None | N |
| W/T | 0.9961 | likely_pathogenic | 0.9932 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/V | 0.9927 | likely_pathogenic | 0.9873 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/Y | 0.8675 | likely_pathogenic | 0.8531 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.601 | neutral | 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.