Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26976 | 81151;81152;81153 | chr2:178565206;178565205;178565204 | chr2:179429933;179429932;179429931 |
| N2AB | 25335 | 76228;76229;76230 | chr2:178565206;178565205;178565204 | chr2:179429933;179429932;179429931 |
| N2A | 24408 | 73447;73448;73449 | chr2:178565206;178565205;178565204 | chr2:179429933;179429932;179429931 |
| N2B | 17911 | 53956;53957;53958 | chr2:178565206;178565205;178565204 | chr2:179429933;179429932;179429931 |
| Novex-1 | 18036 | 54331;54332;54333 | chr2:178565206;178565205;178565204 | chr2:179429933;179429932;179429931 |
| Novex-2 | 18103 | 54532;54533;54534 | chr2:178565206;178565205;178565204 | chr2:179429933;179429932;179429931 |
| 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 | rs759657244  |
-0.995 | 1.0 | D | 0.921 | 0.73 | 0.919376575583 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 1.13244E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs759657244 |
-0.995 | 1.0 | D | 0.921 | 0.73 | 0.919376575583 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs759657244 |
-0.995 | 1.0 | D | 0.921 | 0.73 | 0.919376575583 | gnomAD-4.0.0 | 5.12608E-06 | None | None | None | None | N | None | 0 | 6.78311E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.873 | 0.85 | 0.664918217258 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6047 | likely_pathogenic | 0.5215 | ambiguous | -2.094 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.643874285 | None | None | N |
| P/C | 0.9268 | likely_pathogenic | 0.8565 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -3.248 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/E | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -2.975 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/F | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.951 | deleterious | None | None | None | None | N |
| P/G | 0.9846 | likely_pathogenic | 0.9832 | pathogenic | -2.651 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -2.594 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| P/I | 0.8667 | likely_pathogenic | 0.7878 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.946 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/L | 0.8407 | likely_pathogenic | 0.7901 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.644076089 | None | None | N |
| P/M | 0.974 | likely_pathogenic | 0.959 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/N | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| P/Q | 0.9924 | likely_pathogenic | 0.9927 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.644076089 | None | None | N |
| P/R | 0.9921 | likely_pathogenic | 0.9933 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.944 | deleterious | D | 0.644277893 | None | None | N |
| P/S | 0.9581 | likely_pathogenic | 0.9459 | pathogenic | -2.745 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.644076089 | None | None | N |
| P/T | 0.8909 | likely_pathogenic | 0.8504 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.644277893 | None | None | N |
| P/V | 0.6406 | likely_pathogenic | 0.5116 | ambiguous | -1.007 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.955 | 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.