Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19625 | 59098;59099;59100 | chr2:178593335;178593334;178593333 | chr2:179458062;179458061;179458060 |
| N2AB | 17984 | 54175;54176;54177 | chr2:178593335;178593334;178593333 | chr2:179458062;179458061;179458060 |
| N2A | 17057 | 51394;51395;51396 | chr2:178593335;178593334;178593333 | chr2:179458062;179458061;179458060 |
| N2B | 10560 | 31903;31904;31905 | chr2:178593335;178593334;178593333 | chr2:179458062;179458061;179458060 |
| Novex-1 | 10685 | 32278;32279;32280 | chr2:178593335;178593334;178593333 | chr2:179458062;179458061;179458060 |
| Novex-2 | 10752 | 32479;32480;32481 | chr2:178593335;178593334;178593333 | chr2:179458062;179458061;179458060 |
| 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/R | rs1396400309  |
-1.128 | 0.998 | D | 0.557 | 0.534 | 0.797924774084 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| W/R | rs1396400309 |
-1.128 | 0.998 | D | 0.557 | 0.534 | 0.797924774084 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| W/R | rs1396400309 |
-1.128 | 0.998 | D | 0.557 | 0.534 | 0.797924774084 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -2.957 | Highly Destabilizing | 0.969 | D | 0.425 | neutral | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.149 | Destabilizing | 0.144 | N | 0.378 | neutral | D | 0.53957275 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.587 | Destabilizing | 0.999 | D | 0.554 | neutral | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.528 | Destabilizing | 0.999 | D | 0.551 | neutral | None | None | None | None | N |
| W/F | 0.7743 | likely_pathogenic | 0.7822 | pathogenic | -1.891 | Destabilizing | 0.088 | N | 0.118 | neutral | None | None | None | None | N |
| W/G | 0.9898 | likely_pathogenic | 0.9872 | pathogenic | -3.141 | Highly Destabilizing | 0.979 | D | 0.407 | neutral | D | 0.545142158 | None | None | N |
| W/H | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.516 | neutral | None | None | None | None | N |
| W/I | 0.9961 | likely_pathogenic | 0.995 | pathogenic | -2.292 | Highly Destabilizing | 0.991 | D | 0.469 | neutral | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.384 | Destabilizing | 0.999 | D | 0.548 | neutral | None | None | None | None | N |
| W/L | 0.9879 | likely_pathogenic | 0.985 | pathogenic | -2.292 | Highly Destabilizing | 0.921 | D | 0.409 | neutral | D | 0.533025384 | None | None | N |
| W/M | 0.9964 | likely_pathogenic | 0.9956 | pathogenic | -1.686 | Destabilizing | 0.999 | D | 0.469 | neutral | None | None | None | None | N |
| W/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.658 | Destabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | N |
| W/P | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -2.528 | Highly Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.722 | Destabilizing | 0.999 | D | 0.531 | neutral | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.557 | neutral | D | 0.545649137 | None | None | N |
| W/S | 0.996 | likely_pathogenic | 0.9951 | pathogenic | -2.118 | Highly Destabilizing | 0.994 | D | 0.469 | neutral | D | 0.528644064 | None | None | N |
| W/T | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -2.014 | Highly Destabilizing | 0.995 | D | 0.431 | neutral | None | None | None | None | N |
| W/V | 0.9959 | likely_pathogenic | 0.9949 | pathogenic | -2.528 | Highly Destabilizing | 0.969 | D | 0.453 | neutral | None | None | None | None | N |
| W/Y | 0.9218 | likely_pathogenic | 0.9268 | pathogenic | -1.671 | Destabilizing | 0.939 | D | 0.413 | 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.